Showing results (41-50 of 46) with videos related to
Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 46 results.
American Journal of Human Genetics|April 15, 2014
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5Margaret J McMillin, Anita E Beck, Jessica X Chong, et al.American Journal of Human Genetics|September 3, 2019
Redefining the Etiologic Landscape of Cerebellar MalformationsKimberly A Aldinger, Andrew E Timms, Zachary Thomson, et al.American Journal of Human Genetics|March 2, 2005
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsJennifer J Johnston, Isabelle Olivos-Glander, Christina Killoran, et al.Human Mutation|July 31, 2010
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutationsJennifer J Johnston, Julie C Sapp, Joyce T Turner, et al.Human Mutation|February 7, 2015
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypesMaría Concepción Gil-Rodríguez, Matthew A Deardorff, Morad Ansari, et al.American Journal of Human Genetics|December 31, 2022
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotypeSusan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, et al.Pageof 5