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A Coury

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Journal of Medical Genetics|December 23, 2024

<i>TFAP2E</i> is implicated in central nervous system, orofacial and maxillofacial anomaliesJeshurun C Kalanithy, Enrico Mingardo, Jil D Stegmann, et al.

American Journal of Human Genetics|November 19, 2019

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental AbnormalitiesLaura V Vandervore, Rachel Schot, Chiara Milanese, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 9, 2022

Rare pathogenic variants in WNK3 cause X-linked intellectual disabilitySébastien Küry, Jinwei Zhang, Thomas Besnard, et al.

Nature Genetics|October 22, 2025

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic functionReza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.

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Search research articles

Showing results (51-60 of 54) with videos related to

Sort By:

Pageof 6

You have reached the last page of results.This site can display upto 54 results.

Journal of Medical Genetics|December 23, 2024

<i>TFAP2E</i> is implicated in central nervous system, orofacial and maxillofacial anomaliesJeshurun C Kalanithy, Enrico Mingardo, Jil D Stegmann, et al.

American Journal of Human Genetics|November 19, 2019

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental AbnormalitiesLaura V Vandervore, Rachel Schot, Chiara Milanese, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 9, 2022

Rare pathogenic variants in WNK3 cause X-linked intellectual disabilitySébastien Küry, Jinwei Zhang, Thomas Besnard, et al.

Nature Genetics|October 22, 2025

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic functionReza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.

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