Results 221 to 230 of about 311,384 (302)

Digital psychotherapeutic interventions to reduce dermatological symptom burden: Development and testing of MindMySkin. [PDF]

JAAD Int
Chua JY, Long V, Yeo PM, Ding J, Dua J, Chandran NS, Lim Q, See Tow HX, Sim W, Chong WI, Suendermann O, De Araujo DP, Valderas JM, Phan P, Hsu KJ, Choi E.   +15 more
europepmc   +1 more source

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

Psychometric evaluation of the PID-5-SF in Arab populations. [PDF]

BMC Psychiatry
Soliman A, Abdelrahman RM, Hilal A, Khelifa M.   +3 more
europepmc   +1 more source

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR‐Gene Family

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, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source

Personality Traits and Treatment Adherence Among Parents of Children with Atopic Dermatitis. [PDF]

Medicina (Kaunas)
Markota Čagalj A, Šitum Čeprnja Z, Lešin Gaćina D, Petrić Duvnjak J, Pavić M, Gogić Salapić T, Pavlić B, Pranić SM, Vuković D.   +8 more
europepmc   +1 more source

Averroes\u27 Epistemology and its Critique by Aquinas [PDF]

, 1999
Taylor, Richard C.
core   +1 more source

Feasibility, Test-Retest Reliability and Convergent Validity of the Two-Minute Step Test in Older Adults With Intellectual Disabilities. [PDF]

J Intellect Disabil Res
de Bondt MMA, Hilgenkamp TIM, Oppewal A.
europepmc   +1 more source

Intellectual Knowledge of Material Particulars in Thomas Aquinas: An Introduction [PDF]

, 1996
South, James B.
core   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Neoplatonic Influence in the Writings of Robert Grosseteste [PDF]

, 2008
Hendrix, John S
core   +1 more source