SK Cha, C Huang, Y Ding, X Qi, CL Huang… - Journal of Biological …, 2011 - ASBMB ... 1,–,5). The hypocalciuric, hypomagnesemic variant of Bartter syndrome, Gitelman syndrome, is due to loss of function mutations of the thiazide-sensitive NaCl co-transporter (6). The recently described SeSAME (seizures, sensorineural deafness, ataxia, mentalretardation, and e ... Related articles - All 4 versions
[PDF] from sudjms.netFH Shabo, AAR Mohamed… - 2011 - sudjms.net ... Keywords: Anxiety, depression, divorce, marital stability. entalRetardation (MR) affects over 120 million people worldwide. It often gives rise to severe life long standing disability and imposes heavy burden on the families and carers1. ... Related articles - View as HTML - All 2 versions
PW Majerus - Journal of Biological Chemistry, 2011 - ASBMB ... MORM (mentalretardation, truncal obesity, retinal dystrophy, micropenis) syndrome results from a mutation that deletes the CAAX box in inositol-polyphosphate 5-phosphatase type IV, and Joubert syndrome results from mutations in the catalytic domain in this same enzyme ... Related articles - All 5 versions
ME Ross… - Neurobiology of Actin, 2011 - Springer ... traffi cking P rimary microcephaly (≤ –3SD at b irth) Neuronal h eterotopia Sheen et al. ( 2004 ) FMRP (FMR1) Fragile X m entalretardation G enetically link ed to R ac1 pathw ay and Rac1-dependent regulation of cofilin Mental retardation syndrome CGG expansion in 5 UTR ... Related articles - All 2 versions
C Zazo, S Thiele, C Martín… - Journal of Bone and …, 2011 - Wiley Online Library ... obesity defined as body m ass index above 30 kg/m 2 in adults or weight above the 97th centile in children; MR: m entalretardation; NV: norm al value. Phosphorus norm al values: 3.8-6.5m g/dL (1-3 yr), 3.7-5.6m g/dL (4-11 yr), 2.9-5.4m g/dL (12-15 yr) and 2.4 - 4.0m ... Related articles - All 2 versions
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