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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, mental retardation, and e ...
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[PDF] from sudjms.netFH Shabo, AAR Mohamed… - 2011 - sudjms.net
... Keywords: Anxiety, depression, divorce, marital stability. ental Retardation (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. ...
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PW Majerus - Journal of Biological Chemistry, 2011 - ASBMB
... MORM (mental retardation, 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 ...
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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 ental retardation G enetically link ed to R ac1 pathw ay and
Rac1-dependent regulation of cofilin Mental retardation syndrome CGG expansion in 5 UTR ...
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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 ental retardation; 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 ...
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