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Introduction The deductive method: from karyotyping to aCGH and WES is an important aspect in the diagnosis search for causes of intellectual disability due congenital brain anomalies. There recommendation exclude presence CNV or monogenic variants patients with a normal karyotype, but clinical picture syndromic disease. Objectives Improvement disability. Methods 60K Agilent microarrays, SureSe...
1MD, Faculdade Evangélica do Paraná, Curitiba PR, Brazil; 2MD, Medical Genetic Service, Hospital de Clínicas de Porto Alegre RS, Brazil; 3MD, PhD, Neurophysiologist, Neurology Division, Internal Medicine Department, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba PR, Brazil; 4MD, PhD, Medical Genetic Service, Hospital de Clínicas de Porto Alegre RS, Brazil; 5MD, PhD, Group for Ad...
BACKGROUND We sought to investigate the diagnostic yield and mutation spectrum in previously reported genes for early-onset epilepsy and disorders of severe developmental delay. METHODS In 400 patients with these disorders with no known underlying aetiology and no major structural brain anomaly, we analysed 46 genes using a combination of targeted sequencing on an Illumina MiSeq platform and ...
Genetic alterations in kinases have been linked to multiple human pathologies. To explore the landscape of kinase genetic variation in gastric cancer (GC), we used targeted, paired-end deep sequencing to analyze 532 protein and phosphoinositide kinases in 14 GC cell lines. We identified 10,604 single-nucleotide variants (SNV) in kinase exons including greater than 300 novel nonsynonymous SNVs. ...
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