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Reply to 3p deletion and (skewed) literature review
(2010)
[No abstract available]
Reply to 3p deletion and (skewed) literature review
(2010)
[No abstract available]
Assessing the landscape of STXBP1-related disorders in 534 individuals
(Oxford University Press, 2022)
Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes
(SPRINGER, 2010)
Compound forms of Charcot-Marie-Tooth (CMT) disease have been recently associated with unusually severe neuropathies, an observation that prompted the proposition that the additive effects of two mutations should be searched ...
Applying a genetic neuro-model reference adaptive controller in drilling optimization
(2007-10-01)
Motivated by rising drilling operation costs, the oil industry has shown a trend toward real-time measurements and control. In this scenario, drilling control becomes a challenging problem for the industry, especially due ...
Applying a genetic neuro-model reference adaptive controller in drilling optimization
(2007-10-01)
Motivated by rising drilling operation costs, the oil industry has shown a trend toward real-time measurements and control. In this scenario, drilling control becomes a challenging problem for the industry, especially due ...
Molecular characterization of a patient with 3p deletion syndrome and a review of the literature
(2008)
3p deletion syndrome is a rare disorder involving developmental delay, dysmorphic physical features, and growth retardation. Molecular mapping of several cases in the literature have identified a critical region on chromosome ...
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 ...
X-linked adrenoleukodystrophy in heterozygous female patients: women are not just carriers
(ASSOC ARQUIVOS NEURO- PSIQUIATRIASAO PAULO SP, 2012)
X-linked adrenoleukodystrophy (X-ALD) is a recessive X-linked disorder associated with marked phenotypic variability. Female carriers are commonly thought to be normal or only mildly affected, but their disease still needs ...