Results 1 to 10 of about 148,978 (147)
Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A
Frontiers in Genetics, 2023 Congenital muscular dystrophy type 1A (CMD1A) is a rare autosomal recessive disorder caused by mutations in the LAMA2 gene. CMD1A is characterized by peripheral hypotonia and muscle weakness from the first months of life, cerebral white matter ...
Natalia Diaz-Lombana +7 more
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Scientific Reports, 2023 Up to 40% of rare disorders (RD) present facial dysmorphologies, and visual assessment is commonly used for clinical diagnosis. Quantitative approaches are more objective, but mostly rely on European descent populations, disregarding diverse population ...
Luis M. Echeverry-Quiceno +10 more
doaj +1 more source
Linfangiomatosis esplénica en un paciente adulto, Reporte de caso
Acta Médica Peruana, 2022 Los linfangiomas son malformaciones benignas del sistema linfático que afectan con mayor frecuencia a los niños y en raras ocasiones a adultos. Presentamos el caso de una mujer de 36 años, con cuadro clínico de 6 meses de dolor abdominal difuso sin ...
Carlos Eduardo Jiménez-Canizales +4 more
doaj +1 more source
Geographic clusters of congenital anomalies in Argentina [PDF]
, 2016 Geographical clusters are defined as the occurrence of an unusual number of cases higher than expected in a given geographical area in a certain period of time.
Barbero, Pablo +7 more
core +1 more source
Revista de la Facultad de Ciencias Médicas de Córdoba, 2018 Introduction: Matanza-Riachuelo basin is one of the most polluted sites in Argentina, with 4,885,000 inhabitants. This study evaluated risk factors associated with congenital anomalies (CA) and low birth weight.
María Paz Bidondo +8 more
doaj +1 more source
Investigaciones Geográficas, 2012 Este estudio analiza la variabilidad espacial y temporal de la precipitación en el sur de la península de Yucatán, a través de anomalías y tendencias de la precipitación anual y estacional y la ocurrencia de sequías meteorológicas, empleando datos de ...
Sofía Márdero +6 more
doaj +3 more sources
Microcephaly in Colombia before the Zika outbreak: A systematic literature review
Biomédica: revista del Instituto Nacional de Salud, 2018 Introduction: Microcephaly is characterized by a smaller than normal head circumference. Recently, Zika virus (ZV) has been associated with microcephaly.
Estephania Candelo +3 more
doaj +1 more source
Revista Ciencias de la Salud, 2017 Introdução: Na atualidade, coexistem dois modelos contrapostos que têm servido como marco para a avaliação e tratamento da deficiência: o modelo reabilitador e o social.
Diana Marcela Ortiz-Quiroga +2 more
doaj +1 more source
Anomalies in the cognitive-executive functions in patients with chiari malformation type I [PDF]
, 2018 Resumen tomado de la publicaciónAnomalías en las funciones cognitivo-ejecutivas en pacientes con la Malformación de Chiari Tipo I. Antecedentes: en la última década, existen evidencias crecientes de que déficits neuropsicológicos, esencialmente en ...
Besteiro González, José Luis +1 more
core +2 more sources
Correlation of radon anomalies with microseismic events in Kangra and Chamba valleys of N-W Himalaya
Geofísica Internacional, 2000 El monitoreo de radón en Palampur y Dalhousie, en los valles de Kangra y Chamba, utiliza la emanometría por medición discreta de radón desde 1992, dentro del programa de Sismicidad del Himalaya del gobierno de la India.
H. S. Virk +4 more
doaj +1 more source