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European Journal of Human Genetics : EJHG|January 1, 1993
Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization eventI Henry, A Puech, A Riesewijk, et al.Journal of Neuroscience Research|April 17, 1998
Axonal regrowth through a collagen guidance channel bridging spinal cord to the avulsed C6 roots: functional recovery in primates with brachial plexus injuryS Liu, N Bodjarian, O Langlois, et al.Human Mutation|April 27, 2004
Allelic heterogeneity of SMARD1 at the IGHMBP2 locusI Maystadt, M Zarhrate, P Landrieu, et al.The Journal of Clinical Investigation|September 1, 1996
Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy associationL Bürglen, J Amiel, L Viollet, et al.British Journal of Haematology|June 1, 1994
Refractory anaemia and mitochondrial cytopathy in childhoodB Bader-Meunier, A Rötig, F Mielot, et al.Nature Genetics|November 4, 2000
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathyP Bomont, L Cavalier, F Blondeau, et al.Neurology|August 18, 2010
Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorderL Lion-Francois, C Mignot, S Vicart, et al.Neurology|November 1, 1994
Cytomegalovirus multifocal neuropathy in AIDS: analysis of 15 consecutive casesE Roullet, V Assuerus, J Gozlan, et al.European Journal of Human Genetics : EJHG|July 26, 2000
Giant axonal neuropathy locus refinement to a < 590 kb critical intervalL Cavalier, C BenHamida, R Amouri, et al.European Journal of Human Genetics : EJHG|April 21, 2001
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndromeS M Houten, J Koster, G J Romeijn, et al.Pageof 12