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G Wheeler

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Science Translational Medicine|May 31, 2023

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon productionFrédéric Ebstein, Sébastien Küry, Victoria Most, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 31, 2024

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorderNour Elkhateeb, Renarta Crookes, Michael Spiller, et al.

American Journal of Medical Genetics. Part A|June 28, 2023

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanismsManinder Kaur, Justin Blair, Batsal Devkota, et al.

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Search research articles

Showing results (381-390 of 383) with videos related to

Sort By:

Pageof 39

You have reached the last page of results.This site can display upto 383 results.

Science Translational Medicine|May 31, 2023

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon productionFrédéric Ebstein, Sébastien Küry, Victoria Most, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 31, 2024

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorderNour Elkhateeb, Renarta Crookes, Michael Spiller, et al.

American Journal of Medical Genetics. Part A|June 28, 2023

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanismsManinder Kaur, Justin Blair, Batsal Devkota, et al.

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