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George E Hoganson

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 31, 2021

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomaliesGabriel C Dworschak, Jaya Punetha, Jeshurun C Kalanithy, et al.

Human Mutation|March 1, 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported IndividualsBobby G Ng, Paulina Sosicka, Satish Agadi, et al.

American Journal of Human Genetics|November 4, 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual DisabilitySébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.

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Search research articles

Showing results (11-20 of 13) with videos related to

Sort By:

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 31, 2021

Human Mutation|March 1, 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported IndividualsBobby G Ng, Paulina Sosicka, Satish Agadi, et al.

American Journal of Human Genetics|November 4, 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual DisabilitySébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.

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