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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 Screening
Abigail Veldman, M B Gea Kiewiet, Dineke Westra, et al.
Human Molecular Genetics
|
August 8, 2023
Macrocephaly and developmental delay caused by missense variants in RAB5C
Klaas Koop, Weimin Yuan, Federico Tessadori, et al.
Neurology
|
January 2, 2024
Molecular and Phenotypic Characterization of the <i>RORB</i>-Related Disorder
Zeynep 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 disorder
Amber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, et al.
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of 4
Search research articles
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Showing results (31-40 of 34) with videos related to
Sort By:
Page
of 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 Screening
Abigail Veldman, M B Gea Kiewiet, Dineke Westra, et al.
Human Molecular Genetics
|
August 8, 2023
Macrocephaly and developmental delay caused by missense variants in RAB5C
Klaas Koop, Weimin Yuan, Federico Tessadori, et al.
Neurology
|
January 2, 2024
Molecular and Phenotypic Characterization of the <i>RORB</i>-Related Disorder
Zeynep 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 disorder
Amber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, et al.
Page
of 4