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Facharzt/-ärztin, Institut für Humangenetik
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2024 WS
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Die folgenden Publikationen sind in der Online-Universitätsbibliographie der Universität Duisburg-Essen verzeichnet. Weitere Informationen finden Sie gegebenenfalls auch auf den persönlichen Webseiten der Person.
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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndromeIn: The American Journal of Human Genetics Jg. 111 (2024) Nr. 8, S. 1605 - 1625Online Volltext: dx.doi.org/
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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeIn: Nature Jg. 632 (2024) Nr. 8026, S. 832 - 840Online Volltext: dx.doi.org/ (Open Access)
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Distinct neonatal hyperammonemia and liver synthesis dysfunction : Case report of a severe MEGDHEL syndromeIn: Frontiers in Pediatrics Jg. 12 (2024) 1278047Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Episignatures in practice : Independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disordersIn: European Journal of Human Genetics Jg. 32 (2024) Nr. 1, S. 717 - 726Online Volltext: dx.doi.org/ (Open Access)
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Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivityIn: The American Journal of Human Genetics Jg. 111 (2024) Nr. 6, S. 1206 - 1221Online Volltext: dx.doi.org/ (Open Access)
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Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsIn: Nature Genetics Jg. 56 (2024) Nr. 8, S. 1644 - 1653Online Volltext: dx.doi.org/ (Open Access)
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Pathogenic PHIP Variants are Variably Associated With CAKUTIn: Kidney International Reports Jg. 9 (2024) Nr. 8, S. 2484 - 2497Online Volltext: dx.doi.org/ (Open Access)
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Skeletal muscle vulnerability in a child with Pitt-Hopkins syndromeIn: Skeletal Muscle Jg. 14 (2024) Nr. 1, 15Online Volltext: dx.doi.org/ (Open Access)
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Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplexIn: Journal of Medical Genetics (eJMG) Jg. 60 (2023) Nr. 1, S. 48 - 56Online Volltext: dx.doi.org/ (Open Access)
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Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defectsIn: Brain: A Journal of Neurology Jg. 146 (2023) Nr. 10, S. 4200 - 4216Online Volltext: dx.doi.org/
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CUX1-related neurodevelopmental disorder : deep insights into phenotype-genotype spectrum and underlying pathologyIn: European Journal of Human Genetics Jg. 31 (2023) Nr. 11, S. 1251 - 1260Online Volltext: dx.doi.org/ (Open Access)
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Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disordersIn: Genetics in Medicine Jg. 25 (2023) Nr. 8, 100885Online Volltext: dx.doi.org/ (Open Access)
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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and miceIn: Science Advances Jg. 9 (2023) Nr. 10, eade1463Online Volltext: dx.doi.org/ (Open Access)
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Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme QIn: Open Biology Jg. 13 (2023) Nr. 7, 230040Online Volltext: dx.doi.org/ (Open Access)
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Novel Variants of SOX4 in Patients with Intellectual DisabilityIn: International Journal of Molecular Sciences (IJMS) Jg. 24 (2023) Nr. 4, 3519Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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PHIP-associated Chung-Jansen syndrome : Report of 23 new individualsIn: Frontiers in Cell and Developmental Biology Jg. 10 (2023) 1020609Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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De novo missense variants in FBXO11 alter its protein expression and subcellular localizationIn: Human Molecular Genetics Jg. 31 (2022) Nr. 3, S. 440 - 454Online Volltext: dx.doi.org/ (Open Access)
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Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disordersIn: Proceedings of the National Academy of Sciences of the United States of America (PNAS) Jg. 119 (2022) Nr. 4, e2119078119Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndromeIn: Human Molecular Genetics Jg. 31 (2022) Nr. 16, S. 2766 - 2778Online Volltext: dx.doi.org/ (Open Access)
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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndromeIn: Genome Medicine Jg. 14 (2022) Nr. 1, 62Online Volltext: dx.doi.org/ (Open Access)
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Giant congenital melanocytic naevus caused by NRAS Q61K mosaicismIn: JEADV Clinical Practice Jg. 1 (2022) Nr. 4, S. 416 - 419Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvementIn: The Journal of Pathology Jg. 256 (2022) Nr. 1, S. 93 - 107Online Volltext: dx.doi.org/ (Open Access)
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Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome XIn: Nature Communications Jg. 13 (2022) Nr. 1, 6570Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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The different clinical facets of SYN1-related neurodevelopmental disordersIn: Frontiers in Cell and Developmental Biology Jg. 10 (2022) 1019715Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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A homozygous nonsense mutation early in exon 5 of BRCA2 is associated with very severe Fanconi anemiaIn: European Journal of Medical Genetics (EJMG) Jg. 64 (2021) Nr. 8, 104260Online Volltext: dx.doi.org/
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ANKRD11 variants : KBG syndrome and beyondIn: Clinical Genetics Jg. 100 (2021) Nr. 2, S. 187 - 200Online Volltext: dx.doi.org/ (Open Access)
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Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathyIn: European Journal of Human Genetics Jg. 29 (2021) Nr. 5, S. 808 - 815Online Volltext: dx.doi.org/ (Open Access)
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Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in bloodIn: Scientific Reports Jg. 11 (2021) Nr. 1, 15459Online Volltext: dx.doi.org/ (Open Access)
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Correction: Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathyIn: European Journal of Human Genetics Jg. 29 (2021) Nr. 5, S. 887Online Volltext: dx.doi.org/ (Open Access)
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Defining the phenotypical spectrum associated with variants in TUBB2AIn: Journal of Medical Genetics (eJMG) Jg. 58 (2021) Nr. 1, S. 33 - 40Online Volltext: dx.doi.org/ (Open Access)
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Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation : A clinical longitudinal studyIn: American Journal of Medical Genetics, Part A Jg. 185 (2021) Nr. 4, S. 1216 - 1221Online Volltext: dx.doi.org/ (Open Access)
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MFSD2A-associated primary microcephaly : Expanding the clinical and mutational spectrum of this ultra-rare diseaseIn: European Journal of Medical Genetics (EJMG) Jg. 64 (2021) Nr. 10, 104310Online Volltext: dx.doi.org/
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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunctionIn: The American Journal of Human Genetics Jg. 108 (2021) Nr. 2, S. 346 - 356Online Volltext: dx.doi.org/ (Open Access)
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Mutations in PRDM15 are a novel cause of galloway-mowat syndromeIn: Journal of the American Society of Nephrology (JASN) Jg. 32 (2021) Nr. 3, S. 580 - 596Online Volltext: dx.doi.org/ (Open Access)
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One test for all : Whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndromeIn: Orphanet Journal of Rare Diseases Jg. 16 (2021) Nr. 1, 42Online Volltext: dx.doi.org/ (Open Access)
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Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder) : Seven Novel Patients and a ReviewIn: Genes Jg. 12 (2021) Nr. 5, 738Online Volltext: dx.doi.org/ (Open Access)
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Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complicationsIn: European Journal of Human Genetics Jg. 29 (2021) Nr. 1, S. 51 - 60
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13q deletion syndrome resulting from balanced chromosomal rearrangement in father : The significance of parental karyotypingIn: Molecular Cytogenetics Jg. 13 (2020) Nr. 1, 31Online Volltext: dx.doi.org/ (Open Access)
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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and OsteochondromasIn: The American Journal of Human Genetics Jg. 106 (2020) Nr. 6, S. 830 - 845Online Volltext: dx.doi.org/ (Open Access)
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Further evidence for POMK as candidate gene for WWS with meningoencephaloceleIn: Orphanet Journal of Rare Diseases Jg. 15 (2020) 242Online Volltext: dx.doi.org/ (Open Access)
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Int22h1/Int22h2-mediated Xq28 duplication syndrome : de novo duplications, prenatal diagnoses, and additional phenotypic featuresIn: Human Mutation Jg. 41 (2020) Nr. 7, S. 1238 - 1249Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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The adult phenotype of Schaaf-Yang syndromeIn: Orphanet Journal of Rare Diseases Jg. 15 (2020) 294Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiencyIn: Genetics in Medicine Jg. 22 (2020) Nr. 3, S. 524 - 537Online Volltext: dx.doi.org/ (Open Access)
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Activating Mutations of RRAS2 Are a Rare Cause of Noonan SyndromeIn: The American Journal of Human Genetics Jg. 104 (2019) Nr. 6, S. 1223 - 1232Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental DisordersIn: The American Journal of Human Genetics Jg. 104 (2019) Nr. 1, S. 139 - 156Online Volltext: dx.doi.org/ (Open Access)
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Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genesIn: Clinical Genetics Jg. 96 (2019) Nr. 3, S. 246 - 253Online Volltext: dx.doi.org/
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Primäres Meningeom des Nervus opticus im Säuglingsalter als Erstmanifestation einer Neurofibromatose Typ 2In: Der Pathologe Jg. 40 (2019) Nr. 2, S. 179 - 184Online Volltext: dx.doi.org/
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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variantsIn: Genetics in Medicine Jg. 20 (2018) Nr. 10, S. 1175 - 1185Online Volltext: dx.doi.org/ (Open Access)
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BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cellsIn: Brain: A Journal of Neurology Jg. 141 (2018) Nr. 8, S. 2299 - 2311Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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De novo FBXO11 mutations are associated with intellectual disability and behavioural anomaliesIn: Human Genetics Jg. 137 (2018) Nr. 5, S. 401 - 411Online Volltext: dx.doi.org/
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Genetic Diagnostic Elucidation of a Patient With Multiorgan Granulomas, Facial Peculiarities, and Psychomotor RetardationIn: Frontiers in Genetics Jg. 9 (2018) 355Online Volltext: dx.doi.org/ (Open Access)
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Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)In: Human Genetics Jg. 137 (2018) Nr. 9, S. 753 - 768Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Parental origin of deletions and duplications - About the necessity to check for cryptic inversionsIn: Molecular Cytogenetics Jg. 11 (2018) 20Online Volltext: dx.doi.org/ (Open Access)
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The epilepsy phenotypic spectrum associated with a recurrent CUX2 variantIn: Annals of Neurology Jg. 83 (2018) Nr. 5, S. 926 - 934Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3 : A recognizable conditionIn: European Journal of Human Genetics Jg. 25 (2017) Nr. 2, S. 183 - 191Online Volltext: dx.doi.org/ (Open Access)
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Cochlear Implantation in Siblings with Refsum's DiseaseIn: Annals of Otology, Rhinology and Laryngology Jg. 126 (2017) Nr. 8, S. 611 - 614Online Volltext: dx.doi.org/
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Delineating SPTAN1 associated phenotypes : From isolated epilepsy to encephalopathy with progressive brain atrophyIn: Brain: A Journal of Neurology Jg. 140 (2017) Nr. 9, S. 2322 - 2336Online Volltext: dx.doi.org/ (Open Access)
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Early-Onser Epilepsy and Severe cognitive Impairment in six Patients with the de NOVO P.GLU590LYS Variantof CUX2In: Epilepsia Jg. 58 (2017) Nr. Suppl. 5, S. S65Online Volltext: dx.doi.org/
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Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformationIn: European Radiology Jg. 27 (2017) Nr. 12, S. 5093Online Volltext: dx.doi.org/
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Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disabilityIn: Human Genetics Jg. 136 (2017) Nr. 7, S. 821 - 834Online Volltext: dx.doi.org/
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Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autismIn: Human Genetics Jg. 136 (2017) Nr. 2, S. 179 - 192Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndromeIn: European Journal of Human Genetics Jg. 25 (2017) Nr. 8, S. 935 - 945Online Volltext: dx.doi.org/
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Tubulin-related cerebellar dysplasia : definition of a distinct pattern of cerebellar malformationIn: European Radiology Jg. 27 (2017) Nr. 12, S. 5080 - 5092Online Volltext: dx.doi.org/
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Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and IDIn: European Journal of Human Genetics Jg. 25 (2017) Nr. 7, S. 889 - 893Online Volltext: dx.doi.org/
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Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?In: American Journal of Medical Genetics, Part A Jg. 170 (2016) Nr. 1, S. 94 - 102Online Volltext: dx.doi.org/
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Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndromeIn: American Journal of Medical Genetics, Part A Jg. 170 (2016) Nr. 10, S. 2644 - 2651Online Volltext: dx.doi.org/ (Open Access)
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ADAMTSL4-associated isolated ectopia lentis : Further patients, novel mutations and a detailed phenotype descriptionIn: American Journal of Medical Genetics, Part A Jg. 167 (2015) Nr. 10, S. 2376 - 2381Online Volltext: dx.doi.org/
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De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability : expanding the mutational and clinical spectrumIn: Human Genetics Jg. 134 (2015) Nr. 1, S. 97 - 109Online Volltext: dx.doi.org/
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Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndromeIn: Molecular and Cellular Probes Jg. 29 (2015) Nr. 5, S. 330 - 334Online Volltext: dx.doi.org/
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Next-generation sequencing in X-linked intellectual disabilityIn: European Journal of Human Genetics Jg. 23 (2015) Nr. 11, S. 1513 - 1518Online Volltext: dx.doi.org/ (Open Access)
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A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein–Taybi syndromeIn: Clinical Dysmorphology Jg. 23 (2014) Nr. 2, S. 67 - 70Online Volltext: dx.doi.org/
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Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown SyndromeIn: The American Journal of Human Genetics Jg. 95 (2014) Nr. 6, S. 698 - 707Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies abroad molecular and clinical spectrum converging on altered chromatin remodelingremodelingIn: Human Molecular Genetics Jg. 22 (2013) Nr. 25, S. 5121 - 5135Online Volltext: dx.doi.org/
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Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndromeIn: Human Genetics Jg. 132 (2013) Nr. 8, S. 885 - 898Online Volltext: dx.doi.org/
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Complex genetics of radial ray deficiencies : screening of a cohort of 54 patientsIn: Genetics in Medicine Jg. 15 (2013) Nr. 3, S. 195 - 202Online Volltext: dx.doi.org/
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Germline mutations in RASA1 are not found in patients with Klippel-Trenaunay syndrome or capillary malformation with limb overgrowthIn: Molecular Syndromology Jg. 4 (2013) Nr. 4, S. 173 - 178Online Volltext: dx.doi.org/
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Mutations in the gene encoding IFT dynein complex component WDR34 cause jeune asphyxiating thoracic dystrophyIn: The American Journal of Human Genetics Jg. 93 (2013) Nr. 5, S. 932 - 944Online Volltext: dx.doi.org/
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Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - Expanding the phenotypes associated with EFTUD2 mutationsIn: Orphanet Journal of Rare Diseases Jg. 8 (2013) Nr. 1, S. 110Online Volltext: dx.doi.org/ (Open Access)
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The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1 : Is it really a reversed sotos syndrome?In: American Journal of Medical Genetics, Part A Jg. 161 (2013) Nr. 9, S. 2158 - 2166Online Volltext: dx.doi.org/
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Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9In: American Journal of Medical Genetics, Part A Jg. 161 (2013) Nr. 2, S. 295 - 300Online Volltext: dx.doi.org/
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X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entityIn: Orphanet Journal of Rare Diseases Jg. 8 (2013) Nr. 1, S. 146Online Volltext: dx.doi.org/ (Open Access)
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A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature.In: Molecular Syndromology Jg. 3 (2012) Nr. 5, S. 223 - 229Online Volltext: dx.doi.org/
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Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeIn: Nature Genetics Jg. 44 (2012) Nr. 4, S. 445 - 449Online Volltext: dx.doi.org/
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PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistanceIn: The Journal of Clinical Endocrinology & Metabolism (JCEM) Jg. 97 (2012) Nr. 12, S. E2328 - E2338Online Volltext: dx.doi.org/ (Open Access)
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Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardationIn: European Journal of Medical Genetics (EJMG) Jg. 54 (2011) Nr. 1, S. 67 - 72Online Volltext: dx.doi.org/
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Five patients with novel overlapping interstitial deletions in 8q22.2q22.3In: American Journal of Medical Genetics, Part A Jg. 155 (2011) Nr. 8, S. 1857 - 1864Online Volltext: dx.doi.org/
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Syndrome mit dem Leitsymptom GroßwuchsIn: Medizinische Genetik Jg. 23 (2011) Nr. 4, S. 505 - 517Online Volltext: dx.doi.org/
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An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistanceIn: European Journal of Human Genetics Jg. 18 (2010) Nr. 6, S. 656 - 661Online Volltext: dx.doi.org/
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Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis : evaluation of array CGH as diagnostic tool and search for new candidate lociIn: Human Reproduction Jg. 25 (2010) Nr. 10, S. 2637 - 2646Online Volltext: dx.doi.org/ (Open Access)
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Erratum: Female carriers of X-chromosomal adrenoleukodystrophy : A major differential diagnosis in progressive myelopathyIn: Journal of Neurology Jg. 257 (2010) Nr. 8, S. 1417Online Volltext: dx.doi.org/ (Open Access)
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Female carriers of X-chromosomal adrenoleukodystrophy : A major differential diagnosis in progressive myelopathyIn: Journal of Neurology Jg. 257 (2010) Nr. 8, S. 1394 - 1395Online Volltext: dx.doi.org/
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Wiedemann-Steiner syndrome : three further casesIn: American Journal of Medical Genetics, Part A Jg. 152 (2010) Nr. 9, S. 2372 - 2375Online Volltext: dx.doi.org/
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Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects
28th International Congress of the World Muscle Society, 3-7 October 2023, Charleston, South Carolina, USA,In: Neuromuscular Disorders Jg. 33 (2023) Nr. Supplement 1, S. S130Online Volltext: dx.doi.org/ -
Expanding the phenotypic and genetic CUX2 spectrum
34th International Epilepsy Congress, 28 August – 1 September 2021, Virtual,In: Epilepsia Jg. 62 (2021) Nr. Suppl. 3, S. 217 - 218Online Volltext: dx.doi.org/ (Open Access) -
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype with skeletal muscle involvement
26th International Congress of the World Muscle Society; 20th– 24th September 2021,In: Neuromuscular Disorders Jg. 31 (2021) Nr. Supplement 1, S. S143Online Volltext: dx.doi.org/ -
Genotype and phenotype in patients with Noonan syndrome caused by SOS2 variants
53rd European Society of Human Genetics (ESHG) Conference ; June 6-9, 2020, Virtual Conference,In: European Journal of Human Genetics Jg. 28 (2020) Nr. Supplement 1, S. 475 - 476Online Volltext: dx.doi.org/ (Open Access) -
Missense variants in NDD-associated FBXO11 impair its localization and Fbxo11 deficiency leads to neuronal impairment in Drosophila melanogaster
53rd European Society of Human Genetics (ESHG) Conference ; June 6-9, 2020, Virtual Conference,In: European Journal of Human Genetics Jg. 28 (2020) Nr. Supplement 1, S. 353 - 354Online Volltext: dx.doi.org/ (Open Access) -
Mutation-specific pathophysiological mechanisms in a new SATB1-associated neurodevelopmental disorder
53rd European Society of Human Genetics (ESHG) Conference ; June 6-9, 2020, Virtual Conference,In: European Journal of Human Genetics Jg. 28 (2020) Nr. Supplement 1, S. 32 - 33Online Volltext: dx.doi.org/ (Open Access) -
The adult phenotype of Schaaf-Yang syndrome
53rd European Society of Human Genetics (ESHG) Conference ; June 6-9, 2020, Virtual Conference,In: European Journal of Human Genetics Jg. 28 (2020) Nr. Supplement 1, S. 360Online Volltext: dx.doi.org/ (Open Access) -
WES expands the mutational spectrum in patients with Silver-Russell syndrome features
53rd European Society of Human Genetics (ESHG) Conference ; June 6-9, 2020, Virtual Conference,In: European Journal of Human Genetics Jg. 28 (2020) Nr. Supplement 1, S. 229 - 230Online Volltext: dx.doi.org/ (Open Access) -
Klinische und molekulargenetische Charakterisierung seltener genetischer SyndromeDuisburg ; Essen (2018) 1 CD-ROM
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Clinical and molecular characterization of a group of Spanish and German patients with Noonan syndrome
54th European Society of Human Genetics (ESHG) Conference, August 28-31, 2021, Virtual,In: European Journal of Human Genetics Jg. 30 (2022) Nr. Suppl. 1, S. 355 - 356Online Volltext (Open Access) -
Investigation of two novel SOX4 mutations found in patients with intellectual disability
54th European Society of Human Genetics (ESHG) Conference, 28–31 August 2021, Virtual,In: European Journal of Human Genetics Jg. 30 (2022) Nr. Suppl. 1, S. 252Online Volltext (Open Access) -
A 3-year old girl with Hypotonia, Ataxia, And Delayed- Development Syndrom (HADDS)
53rd European Society of Human Genetics (ESHG) Conference ; June 6–9, 2020, Virtual Conference,In: European Journal of Human Genetics Jg. 28 (2020) Nr. Supplement 1, S. 868 - 869Online Volltext: dx.doi.org/ (Open Access) -
Further delineation of a novel 2q11.1q11.2 micro-duplication syndrome
50th European Society of Human Genetics Conference, May 27–30, 2017, Copenhagen, Denmark,In: European Journal of Human Genetics Jg. 26 (2019) Nr. Suppl., S. 326Online Volltext: dx.doi.org/ (Open Access) -
Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2
50th European Society of Human Genetics Conference, May 27–30, 2017, Copenhagen, Denmark,In: European Journal of Human Genetics Jg. 26 (2019) Nr. Suppl., S. 380 - 381Online Volltext: dx.doi.org/ (Open Access)