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De Novo COL7A1 mutation in a patient with trisomy 21: Coexistence of dystrophic epidermolysis bullosa and Down syndrome
(2012)
Background Down syndrome (DS) is the most common autosomal chromosomal disorder. Epidermolysis bullosa (EB) is a rare genodermatosis characterized by skin and mucous membrane fragility, with formation of blisters and ...
Estudo citogenético, regiões 2q37e 22q13.3 e condições médicas em doenças do espectro autístico
(Universidade Estadual Paulista (UNESP), 2014)
Eficacia de la profilaxis en el manejo del paciente pediátrico con hemofilia A
(Universidad de Guayaquil. Facultad de Ciencias Médicas. Escuela de Graduados, 2018)
La hemofilia A es un trastorno de la coagulación hereditario relacionado con el cromosoma X
que afecta aproximadamente a 1 de cada 5.000 nacimientos vivos de hombres, es causada por un
nivel plasmático deficiente de ...
Toxicidade de cromo e mercúrio sobre allium cepa L. em concentrações observadas após o rompimento da barragem de Brumadinho
(Universidade Tecnológica Federal do ParanáCampo MouraoBrasilMestrado Profissional em Rede Nacional em Gestão e Regulação de Recursos HídricosUTFPR, 2021-02-26)
The B1 dam of the Córrego do Feijão mine complex, in Brumadinho-MG, broke in January 2019, causing the death of hundreds of people and animals, and causing incalculable damage to the environment. The tailings plume spread ...
Genetic variation of the FMR1 gene among four Mexican populations: Mestizo, Huichol, Purepecha, and Tarahumara
(2008)
Fragile X syndrome is the most common cause of inherited mental retardation; it is caused by expansion of CGG repeats in the first exon of the FMR1 gene. The number of CGG repeats varies between 6 and 50 triplets in normal ...
Genetic variation of the FMR1 gene among four Mexican populations: Mestizo, Huichol, Purepecha, and Tarahumara
(2008)
Fragile X syndrome is the most common cause of inherited mental retardation; it is caused by expansion of CGG repeats in the first exon of the FMR1 gene. The number of CGG repeats varies between 6 and 50 triplets in normal ...
De Novo COL7A1 mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndrome
(John Wiley & Sons, 2012)
BACKGROUND:
Down syndrome (DS) is the most common autosomal chromosomal disorder. Epidermolysis bullosa (EB) is a rare genodermatosis characterized by skin and mucous membrane fragility, with formation of blisters and ...
Autism associated to a deficiency of complexes III and IV of the mitochondrial respiratory chain.
(Universidad del Zulia, 2013)
De Novo COL7A1 mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndrome
(John Wiley & Sons, 2012)
BACKGROUND:
Down syndrome (DS) is the most common autosomal chromosomal disorder. Epidermolysis bullosa (EB) is a rare genodermatosis characterized by skin and mucous membrane fragility, with formation of blisters and ...