Results 31 to 40 of about 1,216,936 (163)
, 2021 This flyer series (1 HEX) is a précis from a tutorial process with Prof. Fredrik Barth. It also develops a view of the main concerns and arguments in the resulting thesis (Theodor Barth) available on KHiODA (and is available for readers who wish to go ...
Barth, Theodor
core
Higher IL-6 and IL6:IGF Ratio in Patients with Barth Syndrome
Journal of Inflammation, 2012 Background Barth Syndrome (BTHS) is a serious X-linked genetic disorder associated with mutations in the tafazzin gene (TAZ, also called G4.5). The multi-system disorder is primarily characterized by the following pathologies: cardiac and skeletal ...
Wilson Lori D +3 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2021 Background Barth Syndrome (BTHS) is a rare genetic disorder that presents as a complex of debilitating symptoms and reduced life expectancy. Well-developed, BTHS-specific assessments measuring primary signs and symptoms of BTHS are not currently ...
Chad Gwaltney +6 more
doaj +1 more source
Précis from Theodor Barth’s doctoral process with Fredrik Barth
, 2021 The flyers feature a data-set processing and modelling its contents in 6 steps: 1) attempt; 2) try again; 3) do something else; 4) return; 5) unlearn; 6) crossover.This flyer series (1 HEX) is a précis from a tutorial process with Prof. Fredrik Barth. It
Barth, Theodor
core
Erdbeschreibung von Kursachsen und den iezt dazu gehörenden Ländern : für die Jugend
Vorlageform des Erscheinungsvermerks: Leipzig, bei Johann Ambrosius Barth ...
Merkel, Dankegott Immanuel
core +3 more sources
Diminished exercise capacity and mitochondrial bc1 complex deficiency in tafazzin-knockdown mice.
Frontiers in Physiology, 2013 The phospholipid, cardiolipin, is essential for maintaining mitochondrial structure and optimal function. Cardiolipin-deficiency in humans, Barth syndrome, is characterized by exercise intolerance, dilated cardiomyopathy, neutropenia and 3-methyl ...
Corey ePowers +3 more
doaj +1 more source
Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP)
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Expert prenatal focused gene‐disease curation is necessary to accurately inform clinical care in the setting of rapidly expanding prenatal genomic sequencing. Methods An international Prenatal Gene Curation Expert Panel assembled and systematically reviewed genes asserted to be associated with prenatal hydrops, stillbirth, or severe ...
Stephanie N. Galloway +37 more
wiley +1 more source
European Journal of Sport Science, Volume 26, Issue 9, September 2026.ABSTRACT Traumatic brain injury (TBI) is a complex neurological condition with enduring consequences that extend well beyond the initial insult. Once regarded primarily as an acute event, TBI is now increasingly recognized as a chronic disorder associated with cognitive, emotional, and physical impairments.
Goretti España‐Irla +5 more
wiley +1 more source
BARTH SYNDROME IN PRACTICE OF CARDIOLOGY
Российский кардиологический журнал, 2018 Barth syndrome is an X-bound inherited recessive disorder with the prevalenсe 1:300000 — 1:400000 of live bornt, caused by mutations in the gene TAZ; manifesting with dilation cardiomyopathy, neutropenia, proxymal myopathy, delayed physical and motoric ...
O. V. Melnik +7 more
doaj +1 more source
Phosphatidylglycerol Supplementation Alters Mitochondrial Morphology and Cardiolipin Composition
Membranes, 2022 The pathogenic variant of the TAZ gene is directly associated with Barth syndrome. Because tafazzin in the mitochondria is responsible for cardiolipin (CL) remodeling, all molecules related to the metabolism of CL can affect or be affected by TAZ ...
I Chu +6 more
doaj +1 more source