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Christopher T Gordon

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Brain : a Journal of Neurology|December 14, 2019

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsisChristopher C Y Mak, Dan Doherty, Angela E Lin, et al.

The Journal of Clinical Investigation|September 18, 2025

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasiaAymeric Masson, Julien Paccaud, Martina Orefice, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, et al.

American Journal of Human Genetics|March 5, 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual DisabilityBenjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.

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Search research articles

Showing results (81-90 of 84) with videos related to

Sort By:

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You have reached the last page of results.This site can display upto 84 results.

Brain : a Journal of Neurology|December 14, 2019

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsisChristopher C Y Mak, Dan Doherty, Angela E Lin, et al.

The Journal of Clinical Investigation|September 18, 2025

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasiaAymeric Masson, Julien Paccaud, Martina Orefice, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, et al.

American Journal of Human Genetics|March 5, 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual DisabilityBenjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.

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