Results 171 to 180 of about 6,146 (287)

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

Language ideologies and the use of French in an English-dominant context of Canada: new insights into linguistic insecurity. [PDF]

Multilingua (Berl)
Bouchard ME.
europepmc   +1 more source

Nationwide Deployment of a Serious Game Designed to Improve COVID-19 Infection Prevention Practices in Switzerland: Prospective Web-Based Study.

JMIR Serious Games, 2021
Suppan M, Stuby L, Harbarth S, Fehlmann CA, Achab S, Abbas M, Suppan L.   +6 more
europepmc   +1 more source

Pharmacological articles in the German magazine DIE ZEIT (THE TIME)-content, adequacy, and comprehensibility. [PDF]

Naunyn Schmiedebergs Arch Pharmacol
Böger LS, Seifert R.
europepmc   +1 more source

Assessment of cross-cultural adaptations of patient-reported shoulder outcome measures in Spanish: a systematic review. [PDF]

Shoulder Elbow, 2017
Gómez-Valero S, García-Pérez F, Flórez-García MT, Miangolarra-Page JC.   +3 more
europepmc   +1 more source

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source

Überachiever or Developerin: Eye movements during the processing of translingual hybrid noun-formations. [PDF]

Heliyon
Dumrukcic N, Kotzor S.
europepmc   +1 more source

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark, Alexander Renwick, Giorgio Tettamanti, Rachel D. Harris, Tania A. Desrosiers, Andrew F. Olshan, Amanda E. Janitz, Michael E. Scheurer, Charles J. Shumate, Angela E. Scheuerle, Sharon E. Plon, Chad D. Huff, Ann Nordgren, Barbara Luke, Philip J. Lupo, Jeremy M. Schraw   +15 more
wiley   +1 more source

Patient-centered web-based information on oral lichen planus: Quality and readability. [PDF]

Med Oral Patol Oral Cir Bucal, 2019
Lorenzo-Pouso AI, Pérez-Sayáns M, Kujan O, Castelo-Baz P, Chamorro-Petronacci C, García-García A, Blanco-Carrión A.   +6 more
europepmc   +1 more source