Showing results (31-40 of 37) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 37 results.
American Journal of Human Genetics|December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental DisorderSara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
American Journal of Medical Genetics. Part A|July 29, 2022
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER dataAmy Hardcastle, Aliska M Berry, Ian M Campbell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 18, 2022
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalitiesElisa Cali, Mohnish Suri, Marcello Scala, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlationMagdalena Koczkowska, Tom Callens, Alicia Gomes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 3, 2018
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlationMagdalena Koczkowska, Tom Callens, Alicia Gomes, et al.
Human Mutation|October 10, 2019
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1Magdalena Koczkowska, Tom Callens, Yunjia Chen, et al.
Molecular Psychiatry|February 5, 2020
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletionIsabelle Cleynen, Worrawat Engchuan, Matthew S Hestand, et al.
Pageof 4