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American Journal of Medical Genetics. Part A|December 7, 2013
Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1V Capra, M Severino, A Rossi, et al.
Minerva Gastroenterology|October 5, 2023
Diagnostic accuracy of antiendomysial antibodies biopsy test for celiac disease in clinical practiceElisa Benelli, Giulia Zavarise, Paolo M Pavanello, et al.
Neuromuscular Disorders : NMD|April 22, 2004
A novel stop codon mutation in the PMP22 gene associated with a variable phenotypeK T Abe, A M M Lino, M T A Hirata, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|October 24, 2006
Genetic abnormalities and CNS tumors: report of two cases of ependymoma associated with Klinefelter's Syndrome (KS)M L Garrè, V Capra, E Di Battista, et al.
European Journal of Human Genetics : EJHG|December 4, 2002
Clinical variability in calpainopathy: what makes the difference?Flávia de Paula, Mariz Vainzof, Maria Rita Passos-Bueno, et al.
Journal of Pediatric Gastroenterology and Nutrition|July 24, 2019
The Role of Distress and Pain Catastrophizing on the Health-related Quality of Life of Children With Inflammatory Bowel DiseaseChiara De Carlo, Matteo Bramuzzo, Claudia Canaletti, et al.
Muscle & Nerve|January 17, 2012
Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotypeJuliana Gurgel-Giannetti, Adriano S Senkevics, Dinorah Zilbersztajn-Gotlieb, et al.
Human Genetics|December 13, 2005
Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophyMaria Manuela O Tonini, Richard J L F Lemmers, Rita C M Pavanello, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 3, 2009
Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriersPatricia Arashiro, Iris Eisenberg, Alvin T Kho, et al.
BMC Research Notes|August 3, 2014
Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case reportThais Cuperman, Stephanie A Fernandes, Naila C V Lourenço, et al.
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