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Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

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Elizabeth Wohler

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American Journal of Human Genetics|April 9, 2022

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutationsJohn Devane, Elisabeth Ott, Eric G Olinger, et al.

Human Molecular Genetics|December 4, 2020

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and miceElla M M A Martin, Annabelle Enriquez, Duncan B Sparrow, et al.

The Journal of Clinical Investigation|January 9, 2019

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophyDevesh C Pant, Imen Dorboz, Agatha Schluter, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, et al.

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Search research articles

Showing results (41-50 of 44) with videos related to

Sort By:

Pageof 5

You have reached the last page of results.This site can display upto 44 results.

American Journal of Human Genetics|April 9, 2022

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutationsJohn Devane, Elisabeth Ott, Eric G Olinger, et al.

Human Molecular Genetics|December 4, 2020

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and miceElla M M A Martin, Annabelle Enriquez, Duncan B Sparrow, et al.

The Journal of Clinical Investigation|January 9, 2019

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophyDevesh C Pant, Imen Dorboz, Agatha Schluter, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, et al.

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