Marianne van Tienhoven - Department of Clinical Genetics, Erasmus MC

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论文共 12 篇作者统计合作学者相似作者

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Diagnostic whole exome sequencing in presumably autosomal recessively inherited retinal dystrophies in an Iranian population

Virginie Verhoeven,Pam Heutinck,Marianne van Tienhoven, Sima Kia,Caroline Klaver, Dariush Farhud,Magda Meester,Alberta Thiadens,Lies Hoefsloot

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 8 (2023)

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Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Patients Suspected of Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins

Gabriëla G Edel,Janna A Hol,Evelien Slot,Jan H von der Thüsen,Yolande van Bever,Rogier C J de Jonge,Marianne van Tienhoven,Hennie T Brüggenwirth,Annelies de Klein,Robbert J Rottier

Laboratory investigation; a journal of technical methods and pathologyno. 11 (2023): 100233-100233

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Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing

Annechien E. G. Haarman,Caroline C. W. Klaver,Milly S. Tedja,Susanne Roosing,Galuh Astuti,Christian Gilissen,Lies H. Hoefsloot,Marianne van Tienhoven,Tom Brands,Frank J. Magielsen,Bert H. J. F. M. M. Eussen,Annelies de Klein,Erwin Brosens,Virginie J. M. Verhoeven

OPHTHALMOLOGY SCIENCEno. 4 (2023)

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Early Onset X‐linked Female Limited High Myopia in Three Multigenerational Families Caused by Novel Mutations in the ARR3 Gene

Ralph van Mazijk,Annechien E. G. Haarman,Lies H. Hoefsloot,Jan R. Polling,Marianne van Tienhoven,Caroline C. W. Klaver,Virginie J. M. Verhoeven,Sjoukje E. Loudon,Alberta A. H. J. Thiadens,Anneke J. A. Kievit

Human mutation（2022）

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Whole Exome Sequencing of Known Eye Genes Reveals Genetic Causes for High Myopia

Annechien E. G. Haarman,Alberta A. H. J. Thiadens,Marianne van Tienhoven,Sjoukje E. Loudon,J. E. M. M. Annelies de Klein,Erwin Brosens,Jan Roelof Polling,Vyne van der Schoot,Arjan Bouman,Anneke J. A. Kievit,Lies H. Hoefsloot,Caroline C. W. Klaver,Virginie J. M. Verhoeven

Human molecular genetics online/Human molecular genetics（2022）

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The Diagnostic Yield Of Whole Exome Sequencing In High Myopia

Annechien E. G. Haarman,Alberta A. H. J. Thiadens,Jan Roelof Polling,Annelies J. E. M. M. De Klein,Erwin Brosens,Marianne Van Tienhoven,Sjoukje E. Loudon,Arjan Bouman,Anneke J. A. Kievit,Lies H. Hoefsloot,Caroline C. W. Klaver,Virginie J. M. Verhoeven

ACTA OPHTHALMOLOGICA（2021）

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TTN Truncating Mutations Double the Diagnostic Yield for DCM and NCCM Patients; Three Years of Experience with a Targeted Panel for Cardiomyopathies

Van Slegtenhorst Marjon A,Van Tienhoven Marianne,Verhagen Judith,I Van Waning Jaap,Van De Laar Ingrid M.B.H., Caliskan Kadir,Michelle Michels,W Wessels Marja,F Majoor-Krakauer Danielle,T Bruggenwirth Hennie,A Oldenburg Rogier

openalex（2016）

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Erratum : Next-generation sequencing-based genome diagnostics across clinical genetics centers: Implementation choices and their effects (European Journal of Human Genetics (2015) 23 (1142-1150) DOI:10.1038/ejhg.2014.279)

EUROPEAN JOURNAL OF HUMAN GENETICS（2015）

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Erratum: Next-generation Sequencing-Based Genome Diagnostics Across Clinical Genetics Centers: Implementation Choices and Their Effects

European Journal of Human Genetics（2015）

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