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Brain : a Journal of Neurology|September 14, 2010
Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathyManju A Kurian, Esther Meyer, Grace Vassallo, et al.American Journal of Human Genetics|July 11, 2006
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndromeNeil V Morgan, Louise A Brueton, Phillip Cox, et al.American Journal of Human Genetics|March 9, 2010
Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)Esther Meyer, Christopher Ricketts, Neil V Morgan, et al.Clinical Endocrinology|August 20, 2010
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidismHakan Cangul, Neil V Morgan, Julia R Forman, et al.Plos Genetics|February 9, 2010
Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman diseaseNeil V Morgan, Mark R Morris, Hakan Cangul, et al.Nature Genetics|June 20, 2006
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain ironNeil V Morgan, Shawn K Westaway, Jenny E V Morton, et al.Nature Genetics|January 18, 2006
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk ratUrsula M Smith, Mark Consugar, Louise J Tee, et al.Pageof 2