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American Journal of Medical Genetics. Part A|August 9, 2018
Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCNRachel D Burnside, Sharon Molinari, Christina Botti, et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences|February 19, 2005
Prenatal diagnostic testing for infantile and late-infantile neuronal ceroid lipofusinoses (NCL) using allele specific primer extension (ASPE)Nanbert Zhong, Weina Ju, Dorota Moroziewicz, et al.
American Journal of Medical Genetics. Part A|August 1, 2012
Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screeningSharon Anderson, Christina Botti, Bo Li, et al.
Neurobiology of Aging|July 28, 2005
Telomere shortening in T lymphocytes of older individuals with Down syndrome and dementiaEdmund C Jenkins, Milen T Velinov, Lingling Ye, et al.
European Journal of Human Genetics : EJHG|June 1, 2010
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the DanishDeborah J Morris-Rosendahl, Reeval Segel, A Peter Born, et al.
Molecular Genetics and Metabolism Reports|March 18, 2021
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemiaYue Huang, Rajesh Sharma, Annette Feigenbaum, et al.
BMJ Open|May 1, 2016
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing studyMichael J Friez, Susan Sklower Brooks, Roger E Stevenson, et al.
Neurology|May 9, 2014
Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 casesAurélie Méneret, Christel Depienne, Florence Riant, et al.
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