Showing results (51-60 of 246) with videos related to

Sort By:
Pageof 25
European Journal of Human Genetics : EJHG|December 14, 2006
Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgarisRobert Gruber, Andreas R Janecke, Christine Fauth, et al.
Journal of Pediatric Gastroenterology and Nutrition|October 22, 2015
Early Clinical Diagnosis of PC1/3 Deficiency in a Patient With a Novel Homozygous PCSK1 Splice-Site MutationBettina Härter, Irene Fuchs, Thomas Müller, et al.
The Journal of Urology|June 11, 2005
Desmopressin associated symptomatic hyponatremic hypervolemia in children. Are there predictive factors?Julia Thumfart, Charles-Christoph Roehr, Klaus Kapelari, et al.
European Journal of Human Genetics : EJHG|June 29, 2012
Inherited ichthyoses/generalized Mendelian disorders of cornificationMatthias Schmuth, Verena Martinz, Andreas R Janecke, et al.
Molecular Genetics & Genomic Medicine|July 14, 2026
Heart Transplant for Noncompaction Cardiomyopathy in NONO-Related Syndromic Intellectual DisabilityJulia S Singer, Dorota Garczarczyk-Asim, Miriam Michel, et al.
Kidney International|July 16, 2004
Effect of renal transplantation in childhood on longitudinal growth and adult heightRichard Nissel, Ira Brázda, Reinhard Feneberg, et al.
Molecular Genetics & Genomic Medicine|January 20, 2021
Characteristic facial features and cortical blindness distinguish the DOCK7-related epileptic encephalopathyEdda Haberlandt, Taras Valovka, Tanja Janjic, et al.
Molecular Genetics & Genomic Medicine|July 1, 2022
Further delineation of SLC9A3-related congenital sodium diarrheaEma Bogdanic, Thomas Müller, Peter Heinz-Erian, et al.
Pediatrics|September 12, 2012
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutationsEva Morava, Julia Vodopiutz, Dirk J Lefeber, et al.
Pediatric Nephrology (Berlin, Germany)|March 13, 2008
Intensified hemodialysis regimens: neglected treatment options for children and adolescentsDominik Müller, Miriam Zimmering, Christopher T Chan, et al.
Pageof 25