Showing results (121-130 of 135) with videos related to

Sort By:
Pageof 14
Annals of the Rheumatic Diseases|September 20, 2015
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseasesMarta Rusmini, Silvia Federici, Francesco Caroli, et al.
Human Genetics|April 6, 2002
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 geneMarco Seri, Maria Savino, Domenico Bordo, et al.
Scientific Reports|October 28, 2016
Goblet Cell Hyperplasia Requires High Bicarbonate Transport To Support Mucin ReleaseGiulia Gorrieri, Paolo Scudieri, Emanuela Caci, et al.
Arthritis and Rheumatism|March 2, 2006
Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implicationsAndrea D'Osualdo, Francesca Ferlito, Ignazia Prigione, et al.
BMC Medical Genetics|November 26, 2016
Assessment of copy number variations in 120 patients with Poland syndromeCarlotta Maria Vaccari, Elisa Tassano, Michele Torre, et al.
European Journal of Human Genetics : EJHG|January 28, 2016
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstructionIvana Matera, Marta Rusmini, Yiran Guo, et al.
American Journal of Human Genetics|February 3, 2007
Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33Simone Sanna-Cherchi, Gianluca Caridi, Patricia L Weng, et al.
Journal of the American Society of Nephrology : JASN|May 16, 2009
A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13Patricia L Weng, Simone Sanna-Cherchi, Terry Hensle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 10, 2010
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parentsMonica Marini, Renata Bocciardi, Stefania Gimelli, et al.
Medicine|June 7, 2003
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illnessMarco Seri, Alessandro Pecci, Filomena Di Bari, et al.
Pageof 14