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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 31, 2018
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
Bo Yuan, Juanita Neira, Davut Pehlivan, et al.
American Journal of Medical Genetics. Part A
|
July 29, 2022
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data
Amy Hardcastle, Aliska M Berry, Ian M Campbell, et al.
American Journal of Human Genetics
|
January 12, 2021
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome
Na Chen, Sen Zhao, Angad Jolly, et al.
Endocrine-Related Cancer
|
February 26, 2015
X-linked acrogigantism syndrome: clinical profile and therapeutic responses
Albert Beckers, Maya Beth Lodish, Giampaolo Trivellin, et al.
Annals of Clinical and Translational Neurology
|
October 24, 2018
Phenotypic expansion in <i>DDX3X</i> - a common cause of intellectual disability in females
Xia Wang, Jennifer E Posey, Jill A Rosenfeld, et al.
The New England Journal of Medicine
|
December 4, 2014
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation
Giampaolo Trivellin, Adrian F Daly, Fabio R Faucz, et al.
American Journal of Human Genetics
|
January 26, 2016
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
Seema R Lalani, Pengfei Liu, Jill A Rosenfeld, et al.
HGG Advances
|
January 20, 2022
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability
Chaofan Zhang, Angad Jolly, Brian J Shayota, et al.
JAMA Pediatrics
|
October 4, 2017
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management
Linyan Meng, Mohan Pammi, Anirudh Saronwala, et al.
Journal of Medical Genetics
|
May 9, 2020
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)
Sen Zhao, Yuanqiang Zhang, Weisheng Chen, et al.
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of 120
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Showing results (1171-1180 of 1,193) with videos related to
Sort By:
Page
of 120
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 31, 2018
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
Bo Yuan, Juanita Neira, Davut Pehlivan, et al.
American Journal of Medical Genetics. Part A
|
July 29, 2022
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data
Amy Hardcastle, Aliska M Berry, Ian M Campbell, et al.
American Journal of Human Genetics
|
January 12, 2021
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome
Na Chen, Sen Zhao, Angad Jolly, et al.
Endocrine-Related Cancer
|
February 26, 2015
X-linked acrogigantism syndrome: clinical profile and therapeutic responses
Albert Beckers, Maya Beth Lodish, Giampaolo Trivellin, et al.
Annals of Clinical and Translational Neurology
|
October 24, 2018
Phenotypic expansion in <i>DDX3X</i> - a common cause of intellectual disability in females
Xia Wang, Jennifer E Posey, Jill A Rosenfeld, et al.
The New England Journal of Medicine
|
December 4, 2014
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation
Giampaolo Trivellin, Adrian F Daly, Fabio R Faucz, et al.
American Journal of Human Genetics
|
January 26, 2016
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
Seema R Lalani, Pengfei Liu, Jill A Rosenfeld, et al.
HGG Advances
|
January 20, 2022
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability
Chaofan Zhang, Angad Jolly, Brian J Shayota, et al.
JAMA Pediatrics
|
October 4, 2017
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management
Linyan Meng, Mohan Pammi, Anirudh Saronwala, et al.
Journal of Medical Genetics
|
May 9, 2020
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)
Sen Zhao, Yuanqiang Zhang, Weisheng Chen, et al.
Page
of 120