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N-RAS and K-RAS gene mutations in Brazilian patients with multiple myeloma
(Taylor & Francis LtdAbingdonInglaterra, 2006)
Searching for Digenic Inheritance in Deaf Brazilian Individuals Using the Multiplex Ligation-Dependent Probe Amplification Technique
(Mary Ann Liebert IncNew RochelleEUA, 2011)
Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria
(Academic Press Inc Elsevier ScienceSan DiegoEUA, 2013)
Molecular genetics study of deafness in Brazil: 8-year experience
(Wiley-lissHobokenEUA, 2007)
Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: Some considerations about familial heterogeneity
(Alliance Communications Group Division Allen PressLawrenceEUA, 2006)
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis
(WILEY-BLACKWELLMALDEN, 2012)
Noonan syndrome (NS) and Noonan-related disorders [cardio-facio-cutaneous (CFC), Costello, Noonan syndrome with multiple lentigines (NS-ML), and neurofibromatosis-Noonan syndromes (NFNS)] are a group of developmental ...
Lesch-Nyhan disease in two families from Chiloe island with mutations in the HPRT1 gene
(Taylor & Francis, 2017)
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report two independent ...
Identification of novel L2HGDH gene mutations and update of the pathological spectrum
(NATURE PUBLISHING GROUP, 2010)
L-2-hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a neurometabolic disorder caused by the toxic accumulation of high concentration of L-2-hydroxyglutaric acid in plasma and cerebrospinal fluid. Distinct mutations on ...