Results 181 to 190 of about 3,014,245 (329)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah +6 more
wiley +1 more source
NOVA ESPÉCIE DE CULICÓIDES (DIPTERA, CERATOPOGONIDAE) DE SÃO VICENTE,ESTADO DE SÃO PAULO, BRASIL
, 1956 Oswaldo Paulo Forattini
openalex +2 more sources
Cadernos de Linguística e Teoria da Literatura, 2014 RESUMO: O presente artigo tem como objetivo interpretar a obra de Caetano Veloso no interior dos movimentos culturais surgidos nos anos 60 no Brasil e no mundo. A realização de um recorte analítico tem por base a escolha de temas ligados à idéia da construção de imagens de Brasil através de manifestações artísticas próprias da cultura de massa e à sua ...
openaire +4 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rare diseases affect 6% of Western societies and are a leading cause of pediatric mortality. The popularization of Next Generation Sequencing technologies, especially exome sequencing (ES), revolutionized the diagnosis of children with rare disease. Still, most patients face extensive diagnostic odysseys and remain undiagnosed.
Anna Luiza Braga Albuquerque +7 more
wiley +1 more source
Inquérito preliminar sobre moléstia de Chagas no Município de Franca, Estado de São Paulo, Brasil
, 1946 J. L. P. De Freitas +3 more
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El avance de los niños a lo largo del sistema educativo en Brasil: el papel de las sacudidas transitorias del ingreso familiar [PDF]
(Disponible en idioma inglés únicamente) En este trabajo se investigan los efectos de las sacudidas económicas de corta duración sobre el avance de los niños a lo largo del sistema educativo en zonas urbanas de Brasil, empleándose un conjunto único de ...
Suzanne Duryea
core
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear +16 more
wiley +1 more source
A Sociologia na América Latina, e particularmente, no Brasil
, 1950 Fernando de Azevedo
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods +16 more
wiley +1 more source