Showing results (51-60 of 128) with videos related to
Sort By:
Pageof 13
Hepatology (Baltimore, Md.)|January 11, 2017
CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndromeAndré Viveiros, Marion Reiterer, Benedikt Schaefer, et al.American Journal of Human Genetics|June 3, 2008
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13Cecilia Giunta, Nursel H Elçioglu, Beate Albrecht, et al.Journal of Molecular Biology|August 6, 2014
Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type CKatja Stange, Tino Thieme, Karen Hertel, et al.Genes|July 29, 2023
SLC5A1 Variants in Turkish Patients with Congenital Glucose-Galactose MalabsorptionFerda Ö Hoşnut, Andreas R Janecke, Gülseren Şahin, et al.JIMD Reports|February 23, 2013
MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow TransplantationArmin Finkenstedt, Melanie Schranz, Sylvia Bösch, et al.Human Molecular Genetics|May 25, 2013
Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndromeThomas Müller, Shuji Mizumoto, Indrajit Suresh, et al.American Journal of Human Genetics|December 17, 2009
Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndromeMunis Dündar, Thomas Müller, Qi Zhang, et al.The Journal of Pediatrics|October 17, 2012
Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndromeJulia Vodopiutz, Heinz Zoller, Aimée L Fenwick, et al.Journal of Pediatric Gastroenterology and Nutrition|December 28, 2018
Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient SeriesStephanie Waich, Anne Roscher, Michaela Brunner-Krainz, et al.Journal of Pediatric Gastroenterology and Nutrition|June 23, 2011
Significance of molecular testing for congenital chloride diarrheaSilvia Lechner, Frank M Ruemmele, Andreas Zankl, et al.Pageof 13