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Platelets|June 29, 2012
Rapid ultrastructural detection of success or failure after bone marrow transplantation in the Chediak-Higashi syndromeJames G White, Richard A Hess, William A Gahl, et al.
American Journal of Medical Genetics. Part A|January 29, 2019
Twenty-four-hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith-Magenis syndrome, a neurodevelopmental disorderAnn C M Smith, Rebecca S Morse, Wendy Introne, et al.
Stem Cell Research|July 4, 2020
Generation and characterization of four Chediak-Higashi Syndrome (CHS) induced pluripotent stem cell (iPSC) linesJenny Serra-Vinardell, Maxwell B Sandler, Evgenia Pak, et al.
Molecular Genetics and Metabolism|February 9, 2010
Homogentisic acid interference in routine urine creatinine determinationPerry R Loken, Mark J Magera, Wendy Introne, et al.
The Laryngoscope|September 8, 2011
Otologic and audiologic manifestations of Hutchinson-Gilford progeria syndromeElizabeth Guardiani, Christopher Zalewski, Carmen Brewer, et al.
Human Mutation|October 29, 2009
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuriaThierry Vilboux, Michael Kayser, Wendy Introne, et al.
Journal of Speech, Language, and Hearing Research : JSLHR|April 7, 2017
Auditory Phenotype of Smith-Magenis SyndromeMegan A Brendal, Kelly A King, Christopher K Zalewski, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1Irini Manoli, Gretchen Golas, Wendy Westbroek, et al.
Clinical Journal of the American Society of Nephrology : CJASN|January 8, 2013
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of NephrolithiasisGalina Nesterova, May Christine Malicdan, Kaori Yasuda, et al.
Medrxiv : the Preprint Server for Health Sciences|May 27, 2024
Anandamide is an Early Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary FibrosisResat Cinar, Abhishek Basu, Muhammad Arif, et al.
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