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Análisis sistémico IN SILICO de la expresión diferencial de genes localizados en la región crítica del síndrome de Down (DSCR) en el cerebro humano
(Universidad Militar Nueva Granada, 2012)
Efeito in vitro do polimorfismo ala16val do gene da superóxido dismutase dependente de manganês no metabolismo oxidativo de linfócitos
(Universidade Federal de Santa MariaBRBioquímicaUFSMPrograma de Pós-Graduação em Ciências Biológicas: Bioquímica Toxicológica, 2010-03-05)
Epidemiological studies suggest that the imbalance in antioxidant enzymes activity genetically caused, increases the risk of metabolic disorders and chronic noncommunicable
diseases. This is the case of polymorphism that ...
Deletion 5q12: Delineation of a Phenotype Including Mental Retardation and Ocular Defects
(WILEY-BLACKWELL, 2011)
Array-CGH enables the detection of submicroscopic chromosomal deletions and duplications and leads to an accurate delineation of the imbalances, raising the possibility of correlating genotype to phenotype and mapping ...
Follow-up of an intelligent odd-mannered teenager with del(3)(p26). Remarks on authorship and ethical commitment
(2006)
A male teenager formerly found to have a 46,XY,del(3)(p26)de novo karyotype was restudied. At the age of 148/12 yr, he attends the last grade of middle school and was a cooperating teenager with slender habitus, severe ...
Follow-up of an intelligent odd-mannered teenager with del(3)(p26). Remarks on authorship and ethical commitment
(2006)
A male teenager formerly found to have a 46,XY,del(3)(p26)de novo karyotype was restudied. At the age of 148/12 yr, he attends the last grade of middle school and was a cooperating teenager with slender habitus, severe ...
De novo dup(7)(q21q22.2) and cytogenetics of 7q21q34 duplications
(2013)
De novo dup(7)(q21q22.2) and cytogenetics of 7q21q34 duplications: We report on a constitutional dup(7)(q21q22.2) and compile 25 similar mid-7q imbalances in order to sort out relevant cytogenetic aspects. The propositus ...
Evaluación nutricional de niños y niñas menores de 5 años con síndrome de Dow, estudio comparativo de 2 patrones de crecimiento, Hospital Francisco Icaza Bustamante
(Universidad de Guayaquil. Facultad de Ciencias Médicas. Escuela de Medicina, 2016)
El Sindrome de Down es la cromosomopatía autosómica más frecuente, caracterizada por
un exceso de material genético su prevalencia es 1 de cada 700 nacidos vivos sin distinción
del ambiente geográfico o de clase social ...
De novo dup(7)(q21q22.2) and cytogenetics of 7q21q34 duplications
(2013)
De novo dup(7)(q21q22.2) and cytogenetics of 7q21q34 duplications: We report on a constitutional dup(7)(q21q22.2) and compile 25 similar mid-7q imbalances in order to sort out relevant cytogenetic aspects. The propositus ...
Somatic Mutations Of Calreticulin In A Brazilian Cohort Of Patients With Myeloproliferative Neoplasms
(Elsevier Editora Ltda, 2015)