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Prenatal Diagnosis|November 9, 2002
Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysisCatherine D Kashork, V Reid Sutton, Jill S Fonda Allen, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 16, 2002
Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2)Ann C M Smith, Andrea L Gropman, Joan E Bailey-Wilson, et al.American Journal of Medical Genetics. Part A|October 17, 2006
RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndromeWeimin Bi, G Mustafa Saifi, Santhosh Girirajan, et al.American Journal of Medical Genetics. Part A|September 12, 2021
A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delayJohn Odom, Hitha Amin, Charul Gijavanekar, et al.The Journal of Pediatrics|December 21, 2010
Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thriveClaudia Soler-Alfonso, Kathleen J Motil, Catherine L Turk, et al.Plos Genetics|June 2, 2012
A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and menMelanie Lacaria, Pradip Saha, Lorraine Potocki, et al.American Journal of Medical Genetics. Part A|January 14, 2021
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humansYoel Gofin, Laura Palmer Mackay, Keren Machol, et al.The Journal of Allergy and Clinical Immunology|April 26, 2011
Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndromeJavier Chinen, Monica Martinez-Gallo, Wenli Gu, et al.Genome Research|May 9, 2002
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouseWeimin Bi, Jiong Yan, Pawe Stankiewicz, et al.Nature Genetics|October 1, 2013
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autismChristian P Schaaf, Manuel L Gonzalez-Garay, Fan Xia, et al.Pageof 9