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JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

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Katelyn Payne

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Human Mutation|October 25, 2019

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicityHanyin Cheng, Simona Capponi, Emma Wakeling, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 15, 2019

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorderGhayda M Mirzaa, Jessica X Chong, Amélie Piton, et al.

American Journal of Human Genetics|June 5, 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental DisorderMargot R F Reijnders, Kerry A Miller, Mohsan Alvi, et al.

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Search research articles

Showing results (21-30 of 23) with videos related to

Sort By:

Pageof 3

You have reached the last page of results.This site can display upto 23 results.

Human Mutation|October 25, 2019

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicityHanyin Cheng, Simona Capponi, Emma Wakeling, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 15, 2019

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorderGhayda M Mirzaa, Jessica X Chong, Amélie Piton, et al.

American Journal of Human Genetics|June 5, 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental DisorderMargot R F Reijnders, Kerry A Miller, Mohsan Alvi, et al.

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