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Angela E Lin

Showing results (131-140 of 170) with videos related to

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American Journal of Medical Genetics. Part A|June 16, 2016
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndromeAngela E Lin, Caroline Michot, Valerie Cormier-Daire, et al.
American Journal of Medical Genetics. Part A|March 26, 2011
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13CKaren W Gripp, Elizabeth Hopkins, Katia Sol-Church, et al.
American Journal of Medical Genetics. Part A|March 30, 2021
Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndromeClara C Hildebrandt, Nisha Patel, John M Graham, et al.
American Journal of Medical Genetics. Part A|February 14, 2013
Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn diseaseHelga V Toriello, Miriam Erick, Jean-Luc Alessandri, et al.
American Journal of Medical Genetics. Part A|July 29, 2018
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patientsMark D Levin, Sulagna C Saitta, Karen W Gripp, et al.
American Journal of Medical Genetics. Part A|June 22, 2019
Costello syndrome: Clinical phenotype, genotype, and management guidelinesKaren W Gripp, Lindsey A Morse, Marni Axelrad, et al.
American Journal of Medical Genetics. Part A|March 15, 2023
Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000-2017: A report from the National Birth Defects Prevention NetworkBailey A Martin-Giacalone, Angela E Lin, Sonja A Rasmussen, et al.
European Journal of Endocrinology|July 15, 2017
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome MeetingClaus H Gravholt, Niels H Andersen, Gerard S Conway, et al.
American Journal of Human Genetics|January 10, 2006
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlationSeema R Lalani, Arsalan M Safiullah, Susan D Fernbach, et al.
American Journal of Human Genetics|August 8, 2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germlineKatherine A Wood, R Spencer Tong, Marialetizia Motta, et al.
Pageof 17

Showing results (131-140 of 170) with videos related to

Sort By:
Pageof 17
American Journal of Medical Genetics. Part A|June 16, 2016
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndromeAngela E Lin, Caroline Michot, Valerie Cormier-Daire, et al.
American Journal of Medical Genetics. Part A|March 26, 2011
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13CKaren W Gripp, Elizabeth Hopkins, Katia Sol-Church, et al.
American Journal of Medical Genetics. Part A|March 30, 2021
Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndromeClara C Hildebrandt, Nisha Patel, John M Graham, et al.
American Journal of Medical Genetics. Part A|February 14, 2013
Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn diseaseHelga V Toriello, Miriam Erick, Jean-Luc Alessandri, et al.
American Journal of Medical Genetics. Part A|July 29, 2018
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patientsMark D Levin, Sulagna C Saitta, Karen W Gripp, et al.
American Journal of Medical Genetics. Part A|June 22, 2019
Costello syndrome: Clinical phenotype, genotype, and management guidelinesKaren W Gripp, Lindsey A Morse, Marni Axelrad, et al.
American Journal of Medical Genetics. Part A|March 15, 2023
Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000-2017: A report from the National Birth Defects Prevention NetworkBailey A Martin-Giacalone, Angela E Lin, Sonja A Rasmussen, et al.
European Journal of Endocrinology|July 15, 2017
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome MeetingClaus H Gravholt, Niels H Andersen, Gerard S Conway, et al.
American Journal of Human Genetics|January 10, 2006
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlationSeema R Lalani, Arsalan M Safiullah, Susan D Fernbach, et al.
American Journal of Human Genetics|August 8, 2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germlineKatherine A Wood, R Spencer Tong, Marialetizia Motta, et al.
Pageof 17