Showing results (81-90 of 246) with videos related to

Sort By:
Pageof 25
Clinical Journal of the American Society of Nephrology : CJASN|October 30, 2014
Patterns of growth after kidney transplantation among children with ESRDDoris Franke, Lena Thomas, Rena Steffens, et al.
Archives of Neurology|July 11, 2007
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL geneGabriel Miltenberger-Miltenyi, Andreas R Janecke, Julia V Wanschitz, et al.
American Journal of Medical Genetics. Part A|January 6, 2005
GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal formAndreas R Janecke, Hans Christian Hennies, Barbara Günther, et al.
Human Genetics|August 22, 2002
Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in AustriaAndreas R Janecke, Almut Hirst-Stadlmann, Barbara Günther, et al.
European Journal of Pediatrics|December 3, 2014
MED20 mutation associated with infantile basal ganglia degeneration and brain atrophyJulia Vodopiutz, Maria T Schmook, Vassiliki Konstantopoulou, et al.
American Journal of Medical Genetics. Part A|October 21, 2009
"Essentially" pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotypeVera Grossmann, Doris Müller, Wilfried Müller, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|August 12, 2004
The effect of sevelamer on the pharmacokinetics of cyclosporin A and mycophenolate mofetil after renal transplantationAnne-Kathrin Pieper, Franziska Buhle, Steffen Bauer, et al.
The Journal of Rheumatology|December 1, 2004
Two familial cases with tumor necrosis factor receptor-associated periodic syndrome caused by a non-cysteine mutation (T50M) in the TNFRSF1A gene associated with severe multiorganic amyloidosisTilmann Kallinich, Sonia Briese, Joachim Roesler, et al.
Investigative Ophthalmology & Visual Science|March 29, 2007
The phenotype of early-onset retinal degeneration in persons with RDH12 mutationsAndreas Schuster, Andreas R Janecke, Robert Wilke, et al.
Genes|July 29, 2025
Homozygous DHCR7 p.Val330Met Variant Associated with Mild Non-Syndromic Intellectual Disability and Elevated Serum 7-Dehydrocholesterol Levels in Two SiblingsLukas Hackl, Edda Haberlandt, Thomas Müller, et al.
Pageof 25