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Matthew A Deardorff

Showing results (121-130 of 128) with videos related to

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HGG Advances|February 1, 2024
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Brain : a Journal of Neurology|September 8, 2022
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsyKari A Mattison, Gilles Tossing, Fred Mulroe, et al.
Nature Genetics|February 16, 2010
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delaySanthosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, 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.
Human Molecular Genetics|January 10, 2014
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritanceFrank J Kaiser, Morad Ansari, Diana Braunholz, et al.
American Journal of Medical Genetics. Part A|June 28, 2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanismsManinder Kaur, Justin Blair, Batsal Devkota, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndromeMarjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, et al.
Nature Genetics|November 15, 2016
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomaliesClaire Redin, Harrison Brand, Ryan L Collins, et al.
Pageof 13

Showing results (121-130 of 128) with videos related to

Sort By:
Pageof 13
You have reached the last page of results.This site can display upto 128 results.
HGG Advances|February 1, 2024
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental featuresMorad Ansari, Kamli N W Faour, Akiko Shimamura, et al.
Brain : a Journal of Neurology|September 8, 2022
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsyKari A Mattison, Gilles Tossing, Fred Mulroe, et al.
Nature Genetics|February 16, 2010
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delaySanthosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, 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.
Human Molecular Genetics|January 10, 2014
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritanceFrank J Kaiser, Morad Ansari, Diana Braunholz, et al.
American Journal of Medical Genetics. Part A|June 28, 2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanismsManinder Kaur, Justin Blair, Batsal Devkota, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndromeMarjolein J A Weerts, Kristina Lanko, Francisco J Guzmán-Vega, et al.
Nature Genetics|November 15, 2016
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomaliesClaire Redin, Harrison Brand, Ryan L Collins, et al.
Pageof 13