Publications by authors named "Amy C Yang"

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Primary Cortisol Deficiency and Growth Hormone Deficiency in a Neonate With Hypoglycemia: Coincidence or Consequence?
Jasmine Gujral, Mabel Yau, Amy C Yang, Rama Kastury, Christopher J Romero

J Endocr Soc· April 2019

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Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.
Amy C Yang, Louise Bier, Jessica R Overbey, Jessica Cohen-Pfeffer, Khyati Desai

Genet Med· June 2017

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Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome.
Lisa Karger, Wahab A Khan, Rafaela Calabio, Ram Singh, Bixia Xiang, Amy C Yang

Am J Med Genet A· May 2017

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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Bobby G Ng, Sergey A Shiryaev, Daisy Rymen, Erik A Eklund, Kimiyo Raymond, Amy C Yang

Hum Mutat· July 2016

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Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.
Pichet Termsarasab, Amy C Yang, Steven J Frucht

Tremor Other Hyperkinet Mov (N Y)· September 2015

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Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency.
Ahmed Khattab, Tony Yuen, Mabel Yau, Sorahia Domenice, Elaine Maria Frade Costa, Amy C Yang

J Pediatr Endocrinol Metab· May 2015

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Myoclonus in ataxia-telangiectasia.
Pichet Termsarasab, Amy C Yang, Steven J Frucht

Tremor Other Hyperkinet Mov (N Y)· March 2015

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Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion.
Pichet Termsarasab, Amy C Yang, Jennifer Reiner, Hui Mei, Stuart A Scott

Tremor Other Hyperkinet Mov (N Y)· February 2015

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Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.
Amy C Yang, Bobby G Ng, Steven A Moore, Jeffrey Rush, Charles J Waechter

Mol Genet Metab· November 2013

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A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.
Klaas J Wierenga, Zhijie Jiang, Amy C Yang, John J Mulvihill, Nicholas F Tsinoremas

Genet Med· May 2013

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