Results 181 to 190 of about 473,594 (212)

Integrating an Undergraduate Longitudinal POCUS Curriculum to Enhance Anatomy Learning: A Short Report. [PDF]

Adv Med Educ Pract
Goulet G, Dallaire G, Hadj-Mimoune S, Trépanier G.   +3 more
europepmc   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Ring-like late gadolinium enhancement pattern in antimalarial-induced cardiomyopathy. [PDF]

Eur Heart J Case Rep
Azoulay LD, Mathian A, Kachenoura N, Amoura Z, Redheuil A.   +4 more
europepmc   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Gambling trajectories among sexual and gender minority individuals in Canada: protocol for a 5-year mixed-methods longitudinal study. [PDF]

BMJ Open
Brodeur M, Légaré AA, Morvannou A, Roberge P, Loignon C, Jutras-Aswad D, Lacasse A, Dufour I, Fleury MJ, Simon O, Hudon C.   +10 more
europepmc   +1 more source

Assessment of Genetic Correlations Between Tobacco or Alcohol Use and Neurodegenerative Diseases Using East Asian Genetic Ancestry Genome‐Wide Association Study Results

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Alzheimer's disease (AD) and Parkinson's disease (PD) are the most prevalent late‐onset neurodegenerative diseases worldwide. Both are influenced in part by genetic factors and are currently incurable. Tobacco and alcohol, the two most common substances used among the general adult population, are potential AD/PD risk factors and are also ...
Linda Wang, Wiame Belbellaj, Frida Lona‐Durazo, Sarah A. Gagliano Taliun   +3 more
wiley   +1 more source

Climatic mechanisms underlying a southwestern French Neanderthal refugium at the onset of the last glaciation. [PDF]

Proc Natl Acad Sci U S A
Sánchez Goñi MF, d'Errico F.
europepmc   +1 more source

Judicial Perspectives on Neurodiversity in Queensland Courts, Tribunals and Commissions: Experiences With Disclosure and Witness Credibility

Australian Journal of Social Issues, EarlyView.
ABSTRACT Little is known about the impacts of the disclosure, or the non‐disclosure, of medical conditions associated with neurodiversity in the context of court proceedings and hearings before tribunals and commissions. This paper examines the experiences of twenty‐three Queensland Judges, Magistrates, and Tribunal and Commission Members with ...
Danielle Bozin, Karen A. Sullivan, Vincent Denault, Catherine Kennon, Lucy Cradduck, Rachel Hews   +5 more
wiley   +1 more source

Floating knees: variables affecting bone union and functional outcomes: a retrospective study of 72 cases. [PDF]

SICOT J
Salese Y, Cotte M, Druel T, Rongieras F, Bertani A, Viste A, Boyer B.   +6 more
europepmc   +1 more source