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Estimativa da frequência da inversão SWBinv-1 entre pais de portadores ds síndrome de Williams-Beuren e pais de filhos normais do Brasil
(Universidade Estadual Paulista (UNESP), 2015)
Estimativa da frequência da inversão SWBinv-1 entre pais de portadores ds síndrome de Williams-Beuren e pais de filhos normais do Brasil
(Universidade Estadual Paulista (Unesp), 2014-12-12)
The Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by various physical abnormalities, including facial dimorphisms, cardiovascular abnormalities, intellectual disability and growth characteristic ...
Estimativa da frequência da inversão SWBinv-1 entre pais de portadores ds síndrome de Williams-Beuren e pais de filhos normais do Brasil
(Universidade Estadual Paulista (Unesp), 2015)
Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication
(2004)
Recurring chromosome translocations, which are found in leukemia, can result in the inappropriate expression of oncogenes or in the formation of chimeric genes that code for structurally and functionally abnormal proteins. ...
[Minor phenotypic variants in patients with acute lymphoblastic leukemia from west Mexico]
(2015)
INTRODUCTION: Acute lymphoblastic leukemia (ALL) has been associated with an excess of minor phenotypic variants (MPV), including common variants and minor anomalies, indicative of an altered phenogenesis. The objective ...
[Minor phenotypic variants in patients with acute lymphoblastic leukemia from west Mexico]
(2015)
INTRODUCTION: Acute lymphoblastic leukemia (ALL) has been associated with an excess of minor phenotypic variants (MPV), including common variants and minor anomalies, indicative of an altered phenogenesis. The objective ...
Minor phenotypic variants in patients with acute lymphoblastic leukemia from west México [Variantes fenotípicas menores en pacientes con leucemia linfoblástica aguda del occidente de México]
(2014)
Introduction: Acute lymphoblastic leukemia (ALL) has been associated with an excess of minor phenotypic variants (MPV), including common variants and minor anomalies, indicative of an altered phenogenesis. The objective ...
Caracterización citogenética y molecular en tejido gonadal de pacientes con síndrome ovotesticular y disgenesia gonadal 46,XY y 46,XX
Objetivos: La etiología de la disgenesia gonadal y el síndrome ovotesticular se desconoce en la mayoría de los casos. Para realizar la caracterización citogenética y molecular de un grupo de pacientes con síndrome ovotesticular ...