Results 131 to 140 of about 603,166 (389)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt +9 more
wiley +1 more source
Jurnal Madania, 2019 This study discusses moderate Islam in West Java based on the perspectives of five mainstream Islam mass organizations: Nahdlatul Ulama, Muhammadiyah, Persatuan Umat Islam, Persatuan Islam, and Jami’atul Washliyah, concerning intolerance cases in the ...
Wawan Hernawan +2 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld +9 more
wiley +1 more source
Young People's Experience of Intolerance, Antisocial Behaviour and Keeping Safe in Disadvantaged Areas of Glasgow [PDF]
The view that intolerance towards young people is rife in the UK has been widely advanced. UK surveys show that a substantial minority of adults describe teenagers as a serious problem in their local area.1,2 The United Nations Committee on the Rights
Egan, Matthew, Neary, Joanne
core
The Postural Tachycardia Syndrome (POTS): Pathophysiology, Diagnosis & Management [PDF]
, 2006 Postural tachycardia syndrome (POTS), characterized by orthostatic tachycardia in the absence of orthostatic hypotension, has been the focus of increasing clinical interest over the last 15 years 1. Patients with POTS complain of symptoms of tachycardia,
Raj, Satish R
core +1 more source
Residential segregation and cultural dissemination: An Axelrod-Schelling model [PDF]
, 2009 In the Axelrod's model of cultural dissemination, we consider mobility of cultural agents through the introduction of a density of empty sites and the possibility that agents in a dissimilar neighborhood can move to them if their mean cultural similarity
C. Gracia-Lázaro +7 more
core +2 more sources
Autism, 2019 Anxiety is present in high rates in both children and adults on the autism spectrum. An increasing number of studies have highlighted the potentially important role that intolerance of uncertainty may have in anxiety for those on the spectrum, as well as
Y. Hwang +3 more
semanticscholar +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background The indication for nasal irrigation with corticosteroids after sinus surgery in patients with Chronic Rhinosinusitis with Nasal Polyps (CRSwNP) is well established, as surgery facilitates distribution throughout the sinonasal cavity.
Juliana Sant'Ana +5 more
wiley +1 more source
The effect of bedrest on various parameters of physiological function. Part XIII - A review of possible mechanisms of orthostatic intolerance to passive tilt [PDF]
Possible mechanisms of orthostatic intolerance to passive tilt - bed rest and water immersion effects on various parameters of physiological ...
Cardus, D. +3 more
core +1 more source