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Brain : a Journal of Neurology|March 25, 2016
De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth diseaseWilliam W Motley, Paulius Palaima, Sabrina W Yum, 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.The Journal of Investigative Dermatology|December 27, 2016
Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen ModificationRobert Gruber, Clare Rogerson, Christian Windpassinger, et al.Brain : a Journal of Neurology|May 18, 2011
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skinMichaela Auer-Grumbach, Martin Weger, Regina Fink-Puches, et al.Gut|May 22, 2015
Congenital secretory diarrhoea caused by activating germline mutations in GUCY2CThomas Müller, Insha Rasool, Peter Heinz-Erian, et al.The Journal of Pediatrics|April 25, 2003
Evidence for genetic heterogeneity in lymphedema-cholestasis syndromeMartin Frühwirth, Andreas R Janecke, Thomas Müller, et al.Human Mutation|February 10, 2017
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcificationsAndreas R Janecke, Ruijuan Xu, Elisabeth Steichen-Gersdorf, et al.Pathogenetics|February 26, 2010
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5CLars R Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, et al.Journal of the Neurological Sciences|July 31, 2007
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndromeBarbara Rohkamm, Mary M Reilly, Hanns Lochmüller, et al.Plos Genetics|December 4, 2009
Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGINPetra Seemann, Anja Brehm, Jana König, et al.Pageof 13