Results 51 to 60 of about 725,420 (187)
Pilot study in neonates using low-level laser therapy in the immediate postoperative period of myelomeningocele [PDF]
Einstein (São Paulo), 2010 Objective: To analyze the tissue repair behavior after corrective surgical incision in neonates submitted to low-level laser therapy, in an attempt to diminish the incidence of postoperative dehiscence following the surgery for myelomeningocele performed
Nathali Cordeiro Pinto +6 more
doaj
A rare case of COL71A1 heterozygous mutations resulting in neonatal dystrophic epidermolysis bullosa
Clinical and Experimental Obstetrics & Gynecology, 2020 Epidermolysis bullosa is a group of rare hereditary vesicular skin diseases associated with mutations of COL7A1. At present, there is no effective treatment.
Q. Yuan +4 more
doaj +1 more source
Journal of Lipid Research, 1969 Concentrations of four neutral glycosyl ceramides were determined in plasma and erythrocytes from nine hemizygous patients with Fabry's disease (a hereditary glycolipid lipidosis), from the sister of one of the patients, and from the heterozygous mother ...
Dennis E. Vance +2 more
doaj +1 more source
Universal localisations and tilting modules for finite dimensional algebras [PDF]
, 2013 We study universal localisations, in the sense of Cohn and Schofield, for finite dimensional algebras and classify them by certain subcategories of our initial module category.
Marks, Frederik
core
Charity Medical Care For Hemoglobinopathies At Madinah, Saudi Arabia
Journal of Taibah University Medical Sciences, 2023 Zakaria Al Hawsawi +3 more
doaj +1 more source
Pulmonary CirculationBone morphogenetic protein receptor 2 (BMPR2) mutation is the most common gene mutation implicated in the pathogenesis of pulmonary arterial hypertension (PAH).
Shine Kumar +3 more
doaj +1 more source
Autopsy and Case Reports, 2015 Hereditary hemochromatosis (HH) is the most commonly identified autosomal recessive genetic disorder in the white population, characterized by increased intestinal iron absorption and secondary abnormal accumulation in parenchymal organs, not infrequently accompanied by functional impairment.
Stephen A. Geller +1 more
openaire +3 more sources
Germline variants in patients diagnosed with pediatric soft tissue sarcoma
Acta OncologicaBackground: While soft tissue sarcomas affect younger patients, few studies have assessed the distribution of underlying pathogenic germline variants. Patients and methods: We retrospectively identified all pediatric and young adult patients (0–22 years)
Synnøve Yndestad +5 more
doaj +1 more source
Acute and dramatic saxophone penis
Indian Dermatology Online Journal, 2015 We present a case of intense genital swelling because of a hereditary angioedema. This rare disease should be included in the differential diagnosis of acute and asymptomatic genital edema, because it may prevent future potentially life-threatening ...
Carlota Gutiérrez García-Rodrigo +4 more
doaj +1 more source
Noise-induced tinnitus: A comparison between four clinical groups without apparent hearing loss
Noise and Health, 2011 The number of people with normal hearing thresholds seeking medical help for tinnitus and other hearing problems is increasing. For diagnostic purposes, existence/nonexistence of lesions or combinations of lesions in the inner ear not reflected in the ...
Ann-Cathrine Lindblad +2 more
doaj +1 more source