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Matthew E Hurles

Showing results (151-160 of 190) with videos related to

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Cell|February 25, 2017
An Organismal CNV Mutator Phenotype Restricted to Early Human DevelopmentPengfei Liu, Bo Yuan, Claudia M B Carvalho, et al.
Nature Genetics|September 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populationsV Kartik Chundru, Zhancheng Zhang, Klaudia Walter, et al.
The Journal of Clinical Investigation|July 14, 2015
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disabilityGunnar Houge, Dorien Haesen, Lisenka E L M Vissers, et al.
Nature Genetics|February 28, 2012
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndromeCornelis A Albers, Dirk S Paul, Harald Schulze, et al.
Circulation. Cardiovascular Genetics|March 9, 2012
Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traitsKati Kristiansson, Markus Perola, Emmi Tikkanen, et al.
Lancet (London, England)|December 23, 2014
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research dataCaroline F Wright, Tomas W Fitzgerald, Wendy D Jones, et al.
Mutation Research|September 1, 2012
Harnessing genomics to identify environmental determinants of heritable diseaseCarole Lyn Yauk, J Lucas Argueso, Scott S Auerbach, et al.
American Journal of Human Genetics|May 22, 2021
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanismsCaroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, et al.
American Journal of Human Genetics|June 18, 2013
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanKeren J Carss, Elizabeth Stevens, A Reghan Foley, et al.
American Journal of Human Genetics|November 5, 2013
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyMiriam Schmidts, Julia Vodopiutz, Sonia Christou-Savina, et al.
Pageof 19

Showing results (151-160 of 190) with videos related to

Sort By:
Pageof 19
Cell|February 25, 2017
An Organismal CNV Mutator Phenotype Restricted to Early Human DevelopmentPengfei Liu, Bo Yuan, Claudia M B Carvalho, et al.
Nature Genetics|September 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populationsV Kartik Chundru, Zhancheng Zhang, Klaudia Walter, et al.
The Journal of Clinical Investigation|July 14, 2015
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disabilityGunnar Houge, Dorien Haesen, Lisenka E L M Vissers, et al.
Nature Genetics|February 28, 2012
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndromeCornelis A Albers, Dirk S Paul, Harald Schulze, et al.
Circulation. Cardiovascular Genetics|March 9, 2012
Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traitsKati Kristiansson, Markus Perola, Emmi Tikkanen, et al.
Lancet (London, England)|December 23, 2014
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research dataCaroline F Wright, Tomas W Fitzgerald, Wendy D Jones, et al.
Mutation Research|September 1, 2012
Harnessing genomics to identify environmental determinants of heritable diseaseCarole Lyn Yauk, J Lucas Argueso, Scott S Auerbach, et al.
American Journal of Human Genetics|May 22, 2021
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanismsCaroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, et al.
American Journal of Human Genetics|June 18, 2013
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanKeren J Carss, Elizabeth Stevens, A Reghan Foley, et al.
American Journal of Human Genetics|November 5, 2013
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyMiriam Schmidts, Julia Vodopiutz, Sonia Christou-Savina, et al.
Pageof 19