Browsing WoS İndeksli Yayınlar Koleksiyonu by Language "es"
Now showing items 1-9 of 9
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A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype.
(Inst Investigacion Clinica, 2017)Marfan syndrome is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, mostly caused by mutations in the FBN1 gene, which is located on chromosome 15q21.1 and encoding fibrillin 1. We report ... -
Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia
(Soc Argentina Pediatria, 2015)Ectodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands. ... -
Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia
(Soc Argentina Pediatria, 2017)Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused ... -
Estudio clínico y molecular en una familia con displasia cleidocraneal
(Sociedad Argentina de Pediatria, 2017)Cleidocranial dysplasia is an uncommon bone dysplasia with an autosomal dominant inheritance pattern characterized by short stature, large fontanels, midface hypoplasia, absence or hypoplasia of clavicles and orodental ... -
A Formidable Experience: Scientific Journal of Veterinary Medicine
(Univ Zulia, Facultad Ciencias Veterinarias, 2024)[Abstract Not Available] -
How does ChatGPT perform on the European Board of Orthopedics and Traumatology examination? A comparative study
(Reial Acad Medicina Illes Balears, 2023)Objective: The objective of this investigation was to comprehensively compare the precision and responsiveness of GPT-3.5 and GPT-4 within the domain of Orthopedics and Traumatology. Specifically, our aim was to evaluate ... -
Isotretinoin embryopathy. An entity that can be avoided
(Soc Argentina Pediatria, 2018)Isotretinoin is the most effective drug in the treatment of severe recalcitrant nodulocystic acne. However, treatment with this drug is associated with adverse effects, the most severe being teratogenesis. It has been ... -
Papulonecrotic tuberculid. Case report
(Soc Argentina Pediatria, 2013)A 12-year-old girl was seen with widespread millimetric papules which resolved leaving varioliform scars. Tuberculin test was strongly reactive. Underlying pulmonary tuberculosis was diagnosed. The patient responded to ... -
Prevalence of skin disorders among primary school children in Diyarbakir, Turkey
(Soc Argentina Pediatria, 2014)[Abstract Not Available]
