Results 251 to 260 of about 32,107 (312)

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

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

Social, mobility and contact networks in shaping health behaviours and infectious disease dynamics: a scoping review. [PDF]

Infect Dis Poverty
Cheng Z, Ruktanonchai NW, Wesolowski A, Pei S, Wang J, Cockings S, Tatem AJ, Lai S.   +7 more
europepmc   +1 more source

A neural network for religious fundamentalism derived from patients with brain lesions. [PDF]

Proc Natl Acad Sci U S A
Ferguson MA, Asp EW, Kletenik I, Tranel D, Boes AD, Nelson JM, Schaper FLWVJ, Siddiqi S, Turner JI, Anderson JS, Nielsen JA, Bateman JR, Grafman J, Fox MD.   +13 more
europepmc   +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

"You Know It, You Can Do It-Good Luck!": Managing Music Performance Anxiety in the Context of Transforming Music Performance Ecosystems. [PDF]

Behav Sci (Basel)
Šimunovič N, Habe K.
europepmc   +1 more source

McDowell and Merleau-Ponty on the Cartesian Picture of the Mind [PDF]

, 2012
Thybo, Jensen Rasmus
core   +1 more source

Rising Inpatient Demands for Inherited Metabolic Disorders: Impact on Pediatric Capacity

American Journal of Medical Genetics Part A, EarlyView.
Maria Paula Silva, Kirsten Havens, Katherine Arduini, Anne Kozek, Erika Vucko, Joel Charrow, Joshua Baker, Carlos E. Prada   +7 more
wiley   +1 more source

Intellectual Property [PDF]

, 2008
Published online: 15 May 2015 Intellectual property is a propaganda term used by proponents of copyrights and patents to promote the idea that government-enforced monopolies over ideas and parts of ideas share the beneficial effects of property. In fact, economic research shows that both copyrights and patents do more economic harm than good.
Michele Boldrin, David K Levine
openaire   +2 more sources

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Intellectual Status and Intellectual Growth

Journal of Educational Psychology, 1966
Studying growth in ability is made difficult by (a) unreliability of measures, (b) inequality of units in which measures are expressed, and (c) nonequivalence in what is measured by different instruments and at different levels. These problems are illustrated in analyses of Harvard Growth Study data, where 2 intelligence tests were given to each of 593
openaire   +2 more sources