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Bryan E Hainline

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 10, 2023

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infectionsLauren Jeffries, Emily K Mis, Kirsty McWalter, et al.

American Journal of Human Genetics|July 27, 2021

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in DrosophilaLindsey D Goodman, Heidi Cope, Zelha Nil, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotoniaAlison M Muir, Jennifer F Gardner, Richard H van Jaarsveld, et al.

American Journal of Human Genetics|April 8, 2022

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.

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Search research articles

Showing results (11-20 of 14) with videos related to

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You have reached the last page of results.This site can display upto 14 results.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 10, 2023

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infectionsLauren Jeffries, Emily K Mis, Kirsty McWalter, et al.

American Journal of Human Genetics|July 27, 2021

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in DrosophilaLindsey D Goodman, Heidi Cope, Zelha Nil, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotoniaAlison M Muir, Jennifer F Gardner, Richard H van Jaarsveld, et al.

American Journal of Human Genetics|April 8, 2022

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.

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