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Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome
(Sociedade Brasileira de Genética, 2007-01-01)
Fluorescent in situ hybridization (FISH) with commercial probes covering the elastin gene (ELN) was used to determine the frequency of the 7q11.23 deletion in 18 children clinically diagnosed with Williams-Beuren syndrome ...
Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome
(Sociedade Brasileira de Genética, 2007-01-01)
Fluorescent in situ hybridization (FISH) with commercial probes covering the elastin gene (ELN) was used to determine the frequency of the 7q11.23 deletion in 18 children clinically diagnosed with Williams-Beuren syndrome ...
Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome
(Soc Brasil Genetica, 2007-03-01)
Fluorescent in situ hybridization (FISH) with commercial probes covering the elastin gene (ELN) was used to determine the frequency of the 7q11.23 deletion in 18 children clinically diagnosed with Williams-Beuren syndrome ...
Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome
(2013-09-23)
Williams-Beuren syndrome (WBS) is a genetic disorder characterized by physical and intellectual developmental delay, associated with congenital heart disease and facial dysmorphism. WBS is caused by a microdeletion on ...
Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome
(2013-09-23)
Williams-Beuren syndrome (WBS) is a genetic disorder characterized by physical and intellectual developmental delay, associated with congenital heart disease and facial dysmorphism. WBS is caused by a microdeletion on ...
Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome
(Sociedade Brasileira de Genética, 2014)
Oral findings in williams-beuren syndrome
(Universidade Federal de Minas GeraisBrasilMEDICINA - FACULDADE DE MEDICINAUFMG, 2017)
Introdução: A síndrome de Williams-Beuren (WBS; OMIM #194050) é um transtorno do desenvolvimento caracterizado por
cardiopatia congênita, deficiência intelectual, características faciais dismórficas e anormalidades ...
Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers
(Faculdade de Medicina / USP, 2011)
INTRODUCTION: Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis, mental retardation, overfriendliness, and ocular and renal ...