M Puche, R Guijarro-Martínez… - Journal of Cranio- …, 2011 - Elsevier Coronoid hyperplasia (CH) is an abnormal bony elongation of a histologically normal coronoid process. Its definitive cause remains unknown. ... To analyze the possible implication of congenital hypotonia in the pathogenesis of early coronoid overgrowth.
Y Yan, AS Calikoglu… - Journal of Child Neurology, 2011 - jcn.sagepub.com Abstract Vitamin D-dependent rickets type 1 is an autosomal recessive disorder caused by an inactivating mutation of the 25-hydroxyvitamin- D-1a-hydroxylase (CYP27B1) gene. Clinical presentation is characterized by early onset of severe rickets and can include severe ... Related articles - All 3 versions
P Grigori, E Panayiotou, C Sismani… - European Journal of …, 2011 - Elsevier We report on a 9-month old boy carrying a 21 Mb de novo 13q interstitial deletion. The imbalance was detected by chromosomal analysis and investigated by Fluorescence In Situ Hybridization (FISH) and Comparative Genomic Hybridization (array-CGH) using two different ... All 2 versions
V Cimolin, M Galli, L Vismara, G Grugni… - Research in …, 2011 - Elsevier This study aimed to quantify and compare the gait pattern in Ehlers–Danlos (EDS) and Prader–Willi syndrome (PWS) patients to provide data for developing evidence-based rehabilitation strategies. Twenty EDS and 19 PWS adult patients were evaluated with an optoelectronic ... All 2 versions
A Trabacca, L Losito, M De Rinaldis… - Journal of Child …, 2011 - jcn.sagepub.com Abstract The authors describe a 5-year-old girl with a neurological phenotype of 22q13 deletion syndrome (neonatal and persisting hypotonia, developmental delay, absence of language, decreased perception of pain) and minor dysmorphisms. Subtelomeric fluorescent in situ ... Cited by 1 - Related articles - All 3 versions
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