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Amy C Yang

Showing results (1-10 of 10) with videos related to

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Tremor and Other Hyperkinetic Movements (New York, N.Y.)|March 21, 2015
Myoclonus in ataxia-telangiectasiaPichet Termsarasab, Amy C Yang, Steven J Frucht
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|September 30, 2015
Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype CorrelationsPichet Termsarasab, Amy C Yang, Steven J Frucht
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 27, 2012
A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parentsKlaas J Wierenga, Zhijie Jiang, Amy C Yang, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|February 11, 2015
Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletionPichet Termsarasab, Amy C Yang, Jennifer Reiner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 14, 2016
Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screeningAmy C Yang, Louise Bier, Jessica R Overbey, et al.
Journal of the Endocrine Society|April 10, 2019
Primary Cortisol Deficiency and Growth Hormone Deficiency in a Neonate With Hypoglycemia: Coincidence or Consequence?Jasmine Gujral, Mabel Yau, Amy C Yang, et al.
American Journal of Medical Genetics. Part A|March 21, 2017
Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndromeLisa Karger, Wahab A Khan, Rafaela Calabio, et al.
Molecular Genetics and Metabolism|July 17, 2013
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophyAmy C Yang, Bobby G Ng, Steven A Moore, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|December 24, 2014
Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiencyAhmed Khattab, Tony Yuen, Mabel Yau, et al.
Human Mutation|March 3, 2016
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported PatientsBobby G Ng, Sergey A Shiryaev, Daisy Rymen, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|March 21, 2015
Myoclonus in ataxia-telangiectasiaPichet Termsarasab, Amy C Yang, Steven J Frucht
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|September 30, 2015
Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype CorrelationsPichet Termsarasab, Amy C Yang, Steven J Frucht
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 27, 2012
A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parentsKlaas J Wierenga, Zhijie Jiang, Amy C Yang, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|February 11, 2015
Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletionPichet Termsarasab, Amy C Yang, Jennifer Reiner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 14, 2016
Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screeningAmy C Yang, Louise Bier, Jessica R Overbey, et al.
Journal of the Endocrine Society|April 10, 2019
Primary Cortisol Deficiency and Growth Hormone Deficiency in a Neonate With Hypoglycemia: Coincidence or Consequence?Jasmine Gujral, Mabel Yau, Amy C Yang, et al.
American Journal of Medical Genetics. Part A|March 21, 2017
Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndromeLisa Karger, Wahab A Khan, Rafaela Calabio, et al.
Molecular Genetics and Metabolism|July 17, 2013
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophyAmy C Yang, Bobby G Ng, Steven A Moore, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|December 24, 2014
Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiencyAhmed Khattab, Tony Yuen, Mabel Yau, et al.
Human Mutation|March 3, 2016
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported PatientsBobby G Ng, Sergey A Shiryaev, Daisy Rymen, et al.
Pageof 1