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European Journal of Human Genetics : EJHG|November 10, 2016
Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)Hao Hu, Christoph Hübner, Zoltan Lukacs, et al.Journal of Child Neurology|February 12, 2008
Spinal muscular atrophy with respiratory distress type 1 (SMARD1)Angela M Kaindl, Ulf-Peter Guenther, Sabine Rudnik-Schöneborn, et al.Journal of Medical Genetics|February 22, 2014
POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disabilityAnja von Renesse, Mina V Petkova, Susanne Lützkendorf, et al.American Journal of Medical Genetics. Part A|August 2, 2005
Arthrogryposis multiplex with deafness, inguinal hernias, and early death: a family report of a probably autosomal recessive traitChristian Tiemann, Christoph Bührer, Barbara Burwinkel, et al.European Journal of Human Genetics : EJHG|July 2, 2009
HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbingWenke Seifert, Julia Beninde, Katrin Hoffmann, et al.Human Molecular Genetics|July 23, 2004
Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1)Katja Grohmann, Wilfried Rossoll, Igor Kobsar, et al.Pediatrics|December 14, 2011
The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)Maria Eckart, Ulf-Peter Guenther, Jan Idkowiak, et al.Science (New York, N.Y.)|January 5, 2013
Current-driven spin dynamics of artificially constructed quantum magnetsAlexander Ako Khajetoorians, Benjamin Baxevanis, Christoph Hübner, et al.American Journal of Human Genetics|June 12, 2004
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like diseaseBirgit Uhlenberg, Markus Schuelke, Franz Rüschendorf, et al.Journal of Molecular Medicine (Berlin, Germany)|September 20, 2008
Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile diseaseUlf-Peter Guenther, Lusy Handoko, Raymonda Varon, et al.Pageof 4