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Klaas Koop

Showing results (31-40 of 34) with videos related to

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International Journal of Neonatal Screening|October 24, 2023
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn ScreeningAbigail Veldman, M B Gea Kiewiet, Dineke Westra, et al.
Human Molecular Genetics|August 8, 2023
Macrocephaly and developmental delay caused by missense variants in RAB5CKlaas Koop, Weimin Yuan, Federico Tessadori, et al.
Neurology|January 2, 2024
Molecular and Phenotypic Characterization of the <i>RORB</i>-Related DisorderZeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2025
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorderAmber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, et al.
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Showing results (31-40 of 34) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 34 results.
International Journal of Neonatal Screening|October 24, 2023
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn ScreeningAbigail Veldman, M B Gea Kiewiet, Dineke Westra, et al.
Human Molecular Genetics|August 8, 2023
Macrocephaly and developmental delay caused by missense variants in RAB5CKlaas Koop, Weimin Yuan, Federico Tessadori, et al.
Neurology|January 2, 2024
Molecular and Phenotypic Characterization of the <i>RORB</i>-Related DisorderZeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2025
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorderAmber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, et al.
Pageof 4