Results 21 to 30 of about 69,409 (171)
Case Reports in Genetics, Volume 2013, Issue 1, 2013., 2013 Background. Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant skeletal dysplasia caused by defects involving the TRPS1 gene. Three types (TRPSs I, II, and III) have been described, exhibiting the common triad of hair, craniofacial, and skeletal abnormalities.
Catarina Dias +9 more
wiley +1 more source
Brazilian Journal of Infectious Diseases, 2023 Introdução: A transmissão de infecção pelo HIV de mãe para filho, durante a gestação, o trabalho de parto, o nascimento e o aleitamento ainda constituem um grave problema de saúde pública no Brasil.
Simone Andrade Porto São Pedro +6 more
doaj +1 more source
Accuracy of Prenatal Diagnosis in Elective Termination of Pregnancy: 385 Cases from 2000 to 2007
International Scholarly Research Notices, Volume 2011, Issue 1, 2011., 2011 Objective. To evaluate the quality of prenatal results in all cases of termination of pregnancy (TOP) due to fetal abnormalities in a tertiary prenatal diagnosis center. Material and Methods. Retrospective analysis of the 385 TOP performed on our department due to fetal abnormalities between January 1, 2000, and December 31, 2007.
Fabiana Ramos +13 more
wiley +1 more source
Revista Brasileira de Ginecologia e Obstetrícia, 2000 Objetivos: determinar a freqüência de diagnóstico pré-natal em recém-nascidos (RN) com gastrosquise operados no Instituto Materno-Infantil de Pernambuco (IMIP) e analisar suas repercussões sobre o prognóstico neonatal.
Melania Maria Ramos de Amorim +5 more
doaj +1 more source
, 2021 Research and Practice in Thrombosis and Haemostasis, Volume 5, Issue S2, October 2021.
wiley +1 more source
Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies
BMC Medical Genetics, 2018 Background We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion.
Paula Jorge +12 more
doaj +1 more source
Diagnóstico Pré-Natal de Trombose da Veia Cava Inferior
Acta Médica Portuguesa, 2022 N/a.
Tânia Ascensão +2 more
doaj +1 more source
UEG Week 2021 Oral Presentations
, 2021 United European Gastroenterology Journal, Volume 9, Issue S8, Page 7-161, October 2021.
wiley +1 more source
Umbilical Cord Hemangioma with Pseudocyst: An Exceptional Finding
Acta Médica Portuguesa, 2017 N/A.
Ana Rocha +2 more
doaj +1 more source
VASCULAR LYMPHATIC MALFORMATION WITH UNCOMMON LOCALIZATION [PDF]
, 2016 Introdução: As malformações vasculares linfáticas são entidades raras que afetam os vasos linfáticos. Os autores relatam um caso clínico de uma malformação linfática abdomino-pélvica. Caso Clínico: 28 anos, Gesta 2, Para 1.
Carmo, Olímpia +8 more
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