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Joseph G Gleeson

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American Journal of Human Genetics|April 17, 2025

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorderStephanie Efthymiou, Cailyn P Leo, Chenghong Deng, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 14, 2024

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disordersElisa Cali, Tania Quirin, Clarissa Rocca, et al.

American Journal of Medical Genetics. Part A|September 19, 2009

Expanding CEP290 mutational spectrum in ciliopathiesLorena Travaglini, Francesco Brancati, Tania Attie-Bitach, et al.

Medrxiv : the Preprint Server for Health Sciences|September 15, 2025

Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.

Nature Genetics|March 30, 2026

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.

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Search research articles

Showing results (321-330 of 325) with videos related to

Sort By:

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You have reached the last page of results.This site can display upto 325 results.

American Journal of Human Genetics|April 17, 2025

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorderStephanie Efthymiou, Cailyn P Leo, Chenghong Deng, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 14, 2024

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disordersElisa Cali, Tania Quirin, Clarissa Rocca, et al.

American Journal of Medical Genetics. Part A|September 19, 2009

Expanding CEP290 mutational spectrum in ciliopathiesLorena Travaglini, Francesco Brancati, Tania Attie-Bitach, et al.

Medrxiv : the Preprint Server for Health Sciences|September 15, 2025

Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.

Nature Genetics|March 30, 2026

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.

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