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Universitätsprofessor/in, Institut für Humangenetik
Aktuelle Veranstaltungen
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2024 WS
- Biologie für Mediziner, Teil Genetik u. Evolution, PV
- Begleitvorlesung zum Praktikum Biologie für Mediziner (1. FS)
- Biologie für Mediziner (1. FS)
- Humangenetik, scheinpflichtiges Seminar
- Anleitung zu wissenschaftlichem Arbeiten - Molekulare Tumorgenetik
- Humangenetik, begleitende Vorlesung zum Seminar
Vergangene Veranstaltungen (max. 10)
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2024 SS
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2023 WS
- Begleitvorlesung zum Praktikum Biologie für Mediziner (1. FS)
- Biologie für Mediziner, Teil Genetik u. Evolution, PV
- Biologie für Mediziner (1. FS)
- Humangenetik, scheinpflichtiges Seminar
- Anleitung zu wissenschaftlichem Arbeiten - Molekulare Tumorgenetik
- Humangenetik, begleitende Vorlesung zum Seminar
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2023 SS
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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A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastomaIn: Communications Biology Jg. 7 (2024) Nr. 1, 919Online Volltext: dx.doi.org/ (Open Access)
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Author Correction: A MYCN-driven de-differentiation profile identifies a subgroup of aggressive retinoblastomaIn: Communications Biology Jg. 7 (2024) Nr. 1, 1119Online Volltext: dx.doi.org/ (Open Access)
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Retinoblastoma caused by an RB1 variant with unusually low penetrance in a Danish familyIn: European Journal of Medical Genetics (EJMG) Jg. 70 (2024) 104956Online Volltext: dx.doi.org/ (Open Access)
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Adjuvant therapy for children treated by enucleation at diagnosis of retinoblastomaIn: EJC Paediatric Oncology Jg. 1 (2023) 100004Online Volltext: dx.doi.org/ (Open Access)
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Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndromeIn: Familial Cancer Jg. 22 (2023) Nr. 2, S. 193 - 202Online Volltext: dx.doi.org/ (Open Access)
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Release of Cell-Free Tumor DNA in the Plasma of Uveal Melanoma Patients Under RadiotherapyIn: Investigative Ophthalmology & Visual Science, IOVS Jg. 64 (2023) Nr. 13, 35Online Volltext: dx.doi.org/ (Open Access)
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Comparing efficacy and side effects of two systemic chemotherapy regimens for eye-preserving therapy in children with retinoblastomaIn: Pediatric Blood and Cancer Jg. 69 (2022) Nr. 2, e29362Online Volltext: dx.doi.org/ (Open Access)
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Exact model comparisons in the plausibility frameworkIn: Journal of Statistical Planning and Inference Jg. 217 (2022) S. 224 - 240Online Volltext: dx.doi.org/ (Open Access)
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Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disordersIn: Brain: A Journal of Neurology Jg. 145 (2022) Nr. 9, S. 3274 - 3287Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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RB1-Negative Retinal Organoids Display Proliferation of Cone Photoreceptors and Loss of Retinal DifferentiationIn: Cancers Jg. 14 (2022) Nr. 9, 2166Online Volltext: dx.doi.org/ (Open Access)
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TFF1 in Aqueous Humor : A Potential New Biomarker for RetinoblastomaIn: Cancers Jg. 14 (2022) Nr. 3, 677Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Early detection of metastatic uveal melanoma by the analysis of tumor-specific mutations in cell-free plasma DNAIn: Cancer Medicine Jg. 10 (2021) Nr. 17, S. 5974 - 5982Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Eye tumors in childhood as first sign of tumor predisposition syndromes : Insights from an observational study conducted in Germany and AustriaIn: Cancers Jg. 13 (2021) Nr. 8, S. 1876Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Introduction of a variant classification system for analysis of genotype-phenotype relationships in heritable retinoblastomaIn: Cancers Jg. 13 (2021) Nr. 7, S. 1605Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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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, S. 31Online Volltext: dx.doi.org/ (Open Access)
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Corrigendum: “Conservative management of retinoblastoma: Challenging orthodoxy without compromising the state of metastatic grace. “Alive, with good vision and no comorbidity””In: Progress in Retinal and Eye Research Jg. 78 (2020) 100857Online Volltext: dx.doi.org/ (Open Access)
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Differentiation Protocol for 3D Retinal Organoids, Immunostaining and Signal QuantitationIn: Current Protocols in Stem Cell Biology Jg. 55 (2020) Nr. 1, S. e120Online Volltext: dx.doi.org/ (Open Access)
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Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterationsIn: Acta Neuropathologica Jg. 139 (2020) Nr. 2, S. 243 - 257Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Psychosocial impact of prognostic genetic testing in uveal melanoma patients : a controlled prospective clinical observational studyIn: BMC Psychology Jg. 8 (2020) Nr. 1, S. 8Online Volltext: dx.doi.org/ (Open Access)
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RetinoblastomIn: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft Jg. 117 (2020) Nr. 4, S. 389 - 402Online Volltext: dx.doi.org/
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The impact of RB1 genotype on incidence of second tumours in heritable retinoblastomaIn: European Journal of Cancer (EJC) Jg. 133 (2020) S. 47 - 55Online Volltext: dx.doi.org/
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Chromosome 3 is a valid marker for prognostic testing of biopsy material from uveal melanoma later treated by brachytherapyIn: Biomarkers Jg. 24 (2019) Nr. 2, S. 134 - 140Online Volltext: dx.doi.org/
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Conservative management of retinoblastoma : Challenging orthodoxy without compromising the state of metastatic grace. “Alive, with good vision and no comorbidity”In: Progress in Retinal and Eye Research Jg. 73 (2019) 100764Online Volltext: dx.doi.org/ (Open Access)
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Ectopic intracranial retinoblastoma in a 3.5-month-old infant without eye involvement and without evidence of heritabilityIn: Pediatric Blood and Cancer Jg. 66 (2019) Nr. 5, e27599Online Volltext: dx.doi.org/
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GNAQ Q209R Mutations Are Highly Specific for Circumscribed Choroidal HemangiomaIn: Cancers Jg. 11 (2019) Nr. 7, S. 1031Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Retinoblastoma with late metastatic spread : a case reportIn: Pediatric Blood and Cancer Jg. 66 (2019) Nr. 6, e27656Online Volltext: dx.doi.org/
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Author Correction : The landscape of genomic alterations across childhood cancersIn: Nature Jg. 559 (2018) Nr. 7714, S. E10Online Volltext: dx.doi.org/ (Open Access)
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DNA methylation-based classification of central nervous system tumoursIn: Nature Jg. 555 (2018) Nr. 7697, S. 469 - 474Online Volltext: dx.doi.org/ (Open Access)
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The Interdisciplinary Diagnosis and Treatment of Intraocular TumorsIn: Deutsches Ärzteblatt international Jg. 115 (2018) Nr. 7, S. 106 - 111Online Volltext: dx.doi.org/ (Open Access)
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The landscape of genomic alterations across childhood cancersIn: Nature Jg. 555 (2018) Nr. 7696, S. 321 - 327Online Volltext: dx.doi.org/ (Open Access)
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Childhood cancer predisposition syndromes : A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and HematologyIn: American Journal of Medical Genetics, Part A Jg. 173 (2017) Nr. 4, S. 1017 - 1037Online Volltext: dx.doi.org/
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Incidence of second cancers after radiotherapy and systemic chemotherapy in heritable retinoblastoma survivors : a report from the German reference centerIn: Pediatric Blood and Cancer Jg. 64 (2017) Nr. 1, S. 71 - 80Online Volltext: dx.doi.org/
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Comparing the prognostic value of BAP1 mutation pattern, chromosome 3 status, and BAP1 immunohistochemistry in uveal melanomaIn: The American Journal of Surgical Pathology Jg. 40 (2016) Nr. 6, S. 796 - 805Online Volltext: dx.doi.org/
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Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian DiseaseIn: Human Mutation Jg. 37 (2016) Nr. 5, S. 488 - 494Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Hereditary Diffuse Infiltrating RetinoblastomaIn: Ophthalmic Genetics Jg. 37 (2016) Nr. 1, S. 95 - 97Online Volltext: dx.doi.org/
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How Eye-Preserving Therapy Affects Long-Term Overall Survival in Heritable Retinoblastoma SurvivorsIn: Journal of Clinical Oncology (JCO) Jg. 34 (2016) Nr. 26, S. 3183 - 3188Online Volltext: dx.doi.org/
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Psychosocial impact of prognostic genetic testing in the care of uveal melanoma patients : protocol of a controlled prospective clinical observational studyIn: BMC Cancer Jg. 16 (2016) S. 408Online Volltext: dx.doi.org/ (Open Access)
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Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A DysfunctionIn: The American Journal of Human Genetics Jg. 96 (2015) Nr. 5, S. 765 - 774Online Volltext: dx.doi.org/ (Open Access)
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Neoadjuvant/adjuvant treatment of high-risk retinoblastoma : a report from the German Retinoblastoma Referral CentreIn: British Journal of Ophthalmology (BJO) Jg. 99 (2015) Nr. 7, S. 949 - 953Online Volltext: dx.doi.org/
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Pediatric second primary malignancies after retinoblastoma treatmentIn: Pediatric Blood and Cancer Jg. 62 (2015) Nr. 10, S. 1799 - 1804Online Volltext: dx.doi.org/ (Open Access)
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Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndromeIn: Genetics in Medicine Jg. 16 (2014) Nr. 9, S. 720 - 724Online Volltext: dx.doi.org/
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BAP1 germline mutation in two first grade family members with uveal melanomaIn: British Journal of Ophthalmology (BJO) Jg. 98 (2014) Nr. 2, S. 224 - 227Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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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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Genetic testing in Tunisian families with heritable retinoblastoma using a low cost approach permits accurate risk prediction in relatives and reveals incomplete penetrance in adultsIn: Experimental Eye Research Jg. 124 (2014) S. 48 - 55Online Volltext: dx.doi.org/
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Aktuelles zur klinischen Bedeutung genetischer Veränderungen bei malignen Melanomen der UveaIn: Klinische Monatsblätter für Augenheilkunde Jg. 230 (2013) Nr. 7, S. 686 - 691Online Volltext: dx.doi.org/
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Characterisation of retinoblastomas without RB1 mutations: Genomic, gene expression, and clinical studiesIn: The Lancet Oncology Jg. 14 (2013) Nr. 4, S. 327 - 334Online Volltext: dx.doi.org/
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Chemoreduction improves eye retention in patients with retinoblastoma : a report from the German Retinoblastoma Reference CentreIn: British Journal of Ophthalmology (BJO) Jg. 97 (2013) Nr. 10, S. 1277 - 1283Online Volltext: dx.doi.org/
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Diagnose und Behandlung des Retinoblastoms: aktuelle Konzepte zur sicheren Tumorkontrolle bei Erhalt des SehvermögensIn: Klinische Monatsblätter für Augenheilkunde Jg. 230 (2013) Nr. 3, S. 232 - 242Online Volltext: dx.doi.org/
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Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3In: Nature Genetics Jg. 45 (2013) Nr. 8, S. 933 - 936Online Volltext: dx.doi.org/
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Human PPP1R26P1 Functions as cis-Repressive Element in Mouse Rb1In: PLoS ONE Jg. 8 (2013) Nr. 9, S. e74159Online Volltext: dx.doi.org/ (Open Access)
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Sporadic unilateral retinoblastoma or first sign of bilateral disease?In: British Journal of Ophthalmology (BJO) Jg. 97 (2013) Nr. 4, S. 475 - 480Online Volltext: dx.doi.org/
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The Origin of the RB1 ImprintIn: PLoS ONE Jg. 8 (2013) Nr. 11, S. e81502Online Volltext: dx.doi.org/ (Open Access)
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Trilateral retinoblastoma in a patient with Peutz-Jeghers syndromeIn: American Journal of Medical Genetics, Part A Jg. 161 (2013) Nr. 5, S. 1096 - 1100Online Volltext: dx.doi.org/
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Ultradeep sequencing detects GNAQ and GNA11 mutations in cell-free DNA from plasma of patients with uveal melanomaIn: Cancer Medicine Jg. 2 (2013) Nr. 2, S. 208 - 215Online Volltext: dx.doi.org/
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Current Concepts for Diagnosis and Treatment of Retinoblastoma in Germany : Aiming for Safe Tumor Control and Vision PreservationIn: Klinische Pädiatrie Jg. 224 (2012) Nr. 6, S. 339 - 347Online Volltext: dx.doi.org/
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Erhaltend heilen : interdisziplinäre Ansätze zur augenerhaltenden Therapie des einseitigen RetinoblastomsIn: Unikate: Berichte aus Forschung und Lehre (2012) Nr. 42: Translationale Krebsforschung: Auf dem Weg zu neuen Therapien, S. 116 - 123Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins SyndromeIn: Molecular Syndromology Jg. 2 (2012) Nr. 2, S. 53 - 59Online Volltext: dx.doi.org/
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Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephalyIn: The American Journal of Human Genetics Jg. 90 (2012) Nr. 2, S. 369 - 377Online Volltext: dx.doi.org/ (Open Access)
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Prognostic significance of chromosome 3 alterations determined by microsatellite analysis in uveal melanoma : a long-term follow-up studyIn: British Journal of Cancer (BJC) Jg. 106 (2012) Nr. 6, S. 1171 - 1176Online Volltext: dx.doi.org/
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Retinoblastoma tumorigenesis : genetic and epigenetic changes walk hand in handIn: Future Oncology Jg. 8 (2012) Nr. 5, S. 525 - 528Online Volltext: dx.doi.org/
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Sporadic unilateral retinoblastoma or first sign of bilateral disease?
44th Congress of the International Society of Paediatric Oncology (SIOP) 2012, 5th–8th October, 2012, London, UK,In: Pediatric Blood and Cancer Jg. 59 (2012) Nr. 6, S. 1064 - 1064Online Volltext: dx.doi.org/ -
Treacher Collins syndrome : clinical implications for the paediatrician—a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literatureIn: European Journal of Pediatrics Jg. 171 (2012) Nr. 11, S. 1611 - 1618Online Volltext: dx.doi.org/
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Anthropogenic greenhouse gas contribution to flood risk in England and Wales in autumn 2000In: Nature Jg. 470 (2011) Nr. 7334, S. 382 - 385Online Volltext: dx.doi.org/
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Clinical utility gene card for : RetinoblastomaIn: European Journal of Human Genetics Jg. 19 (2011) Nr. 3,Online Volltext: dx.doi.org/ (Open Access)
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EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylationIn: BMC Cancer Jg. 11 (2011) S. 380Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletionsIn: European Journal of Human Genetics Jg. 19 (2011) Nr. 9, S. 947 - 958Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Loss at chromosome arm 16q in retinoblastoma : confirmation of the association with diffuse vitreous seeding and refinement of the recurrently deleted regionIn: Genes, Chromosomes and Cancer Jg. 50 (2011) Nr. 5, S. 327 - 337Online Volltext: dx.doi.org/
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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndromeIn: Nature Genetics Jg. 43 (2011) Nr. 1, S. 20 - 22Online Volltext: dx.doi.org/
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Neue Entwicklungen zur Genetik und Therapie des RetinoblastomsIn: Klinische Monatsblätter für Augenheilkunde Jg. 228 (2011) Nr. 7, S. 593 - 598Online Volltext: dx.doi.org/
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A variant allele of Growth Factor Independence 1 (GFI1) is associated with acute myeloid leukemiaIn: Blood Jg. 115 (2010) Nr. 12, S. 2462 - 2472Online Volltext: dx.doi.org/
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Chemosensitivity of conjunctival melanoma cell lines
Jahrestagung der Deutschen, Österreichischen und Schweizerischen Gesellschaften für Hämatologie und Onkologie. Berlin, 1.–5. Oktober 2010,In: Onkologie Jg. 33 (2010) Nr. Suppl. 6, S. 66Online Volltext: dx.doi.org/ -
Imprinting des RB1-Gens und „Parent-of-Origin-Effekte“ beim RetinoblastomIn: Medizinische Genetik Jg. 22 (2010) Nr. 4, S. 429 - 433Online Volltext: dx.doi.org/
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Imprinting of RB1 (the new kid on the block)In: Briefings in Functional Genomics and Proteomics Jg. 9 (2010) Nr. 4, S. 347 - 353Online Volltext: dx.doi.org/
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The miR-17-92 gene cluster is amplified and overexpressed in retinoblastomaIn: Klinische Pädiatrie Jg. 221 (2009) Nr. 3, S. 195Online Volltext: dx.doi.org/
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Neurotrophin receptor expression in human primary retinoblastomas and retinoblastoma cell linesIn: Pediatric Blood and Cancer Jg. 50 (2008) Nr. 2, S. 218 - 222Online Volltext: dx.doi.org/
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RetinoblastomaIn: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft Jg. 103 (2006) Nr. 1, S. 59 - 76Online Volltext: dx.doi.org/
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Age at diagnosis of isolated unilateral retinoblastoma does not distinguish patients with and without a constitutional RB1 gene mutation but is influenced by a parent-of-origin effectIn: European Journal of Cancer Jg. 41 (2005) Nr. 5, S. 735 - 740Online Volltext: dx.doi.org/
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Gains and overexpression identify DEK and E2F3 as targets of chromosome 6p gains in retinoblastomaIn: Oncogene Jg. 24 (2005) Nr. 42, S. 6441 - 6449Online Volltext: dx.doi.org/
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Loss of heterozygosity of 1p in uveal melanomas with monosomy 3In: International Journal of Cancer Jg. 116 (2005) Nr. 6, S. 909 - 913Online Volltext: dx.doi.org/
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OTHR-34. Identifying mechanisms of microglia-tumor cell interactions in retinoblastoma
20th International Symposium on Pediatric Neuro-Oncology (ISPNO 2022),In: Neuro-Oncology Jg. 24 (2022) Nr. Supplement_1: Abstracts from the 20th International Symposium on Pediatric Neuro-Oncology (ISPNO 2022), S. i154 - i154Online Volltext: dx.doi.org/ (Open Access) -
cf-DNA and EVs as sources for biomarkers for early detection of second primary malignancies in patients with heritable retinoblastomaIn: European Journal of Human Genetics Jg. 30 (2022) Nr. Suppl. 1, S. 427
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The Impact of the Type of Constitutional RB1 Mutation on Incidence of Second Primary Malignancy Depends on Previous Radiotherapy
50th Congress of the International Society of Paediatric Oncology (SIOP), November 16–19, 2018, Kyoto, Japan,In: Pediatric Blood and Cancer Jg. 65 (2018) Nr. Suppl. 2, S. S47Online Volltext: dx.doi.org/ (Open Access) -
First Prospective National Registry for Pediatric Eye Cancer in Germany and Austria
49th Congress of the International Society of Paediatric Oncology (SIOP), October 12–15, 2017, Washington, DC, USA,In: Pediatric Blood and Cancer Jg. 64 (2017) Nr. Suppl. 3, S. S276 - S277Online Volltext: dx.doi.org/ -
Long-term overall survival for patients with retinoblastoma : A report from the German referral center from 1940-2008
Krebsmedizin heute: präventiv, personalisiert, präzise und partizipativ ; 32. Deutscher Krebskongress ; 24.-27. Februar 2016, Berlin,In: Oncology Research and Treatment Jg. 39 (2016) Nr. Suppl. 1, S. 29 - 30Online Volltext: dx.doi.org/ -
Psychosocial Impact of prognostic Biomarker Study for Patients with Uveal MelanomaIn: Zeitschrift für Psychosomatische Medizin und Psychotherapie Jg. 62 (2016) Nr. 1, S. 37 - 38Online Volltext: dx.doi.org/
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A new mandibulofacial dysostosis syndrome caused by a mutation of POLR1A
35th Annual David W Smith Workshop on Malformations and Morphogenesis, 25–30 July 2014, Madison, Wisconsin,In: American Journal of Medical Genetics, Part A Jg. 167 (2015) Nr. 8, S. 1727 - 1728Online Volltext: dx.doi.org/ -
Second primary malignancies in children and adolescents after retinoblastoma treatment
47th Congress of the International Society of Paediatric Oncology (SIOP), October 8–11, 2015, Cape Town, South Africa,In: Pediatric Blood and Cancer Jg. 62 (2015) Nr. Suppl. 4, S. S232Online Volltext: dx.doi.org/ -
Late effects in children and adolescents treated for retinoblastoma
45th Congress of the International society of Paediatric Oncology (SIOP), 25th - 28th September, 2013, Hong Kong, China,In: Pediatric Blood and Cancer Jg. 60 (2013) Nr. Suppl. 3, S. S12Online Volltext: dx.doi.org/ -
Long-term follow-up of patients receiving chemoreduction for intraocular rettinoblatoma in the German RB Center (1995-2004)
43rd Congress of the International Society of Paediatric Oncology (SIOP) 2011 ; 28th–30th October, 2011, Auckland, New Zealand,In: Pediatric Blood and Cancer Jg. 57 (2011) Nr. 5, S. 785Online Volltext: dx.doi.org/ -
The MIR-17-92 Gene Cluster is Amplified an overexpressed in Rettinoblastoma
41st Annual conference of International Society of Paediatric Oncology SIOP 2009, Sao Paulo, Brazil, October 5–9, 2009,In: Pediatric Blood and Cancer Jg. 53 (2009) Nr. 5, S. 735Online Volltext: dx.doi.org/ -
Prognostic Testing in Uveal MelanomaIn: Cancer Genomics: Molecular Classification, Prognosis and Response Prediction / Pfeffer, Ulrich 2013, S. 79 - 96Online Volltext: dx.doi.org/
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RetinoblastomaIn: Diseases of DNA Repair / Ahmad, Shamim I. (Hrsg.) 2010, S. 220 - 227Online Volltext: dx.doi.org/