Results 201 to 210 of about 21,953 (263)

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Commentary: Editorial bullying: an exploration of acts impacting publication ethics and related environment. [PDF]

Front Res Metr Anal
Shirani A.
europepmc   +1 more source

Integrating molecular genetics into thyroid cancer staging: A critical perspective on personalized risk stratification in thyroidology. [PDF]

Clinics (Sao Paulo)
Sengul I, Sengul D.
europepmc   +1 more source

Annotations in Scholarly Editions and Research

, 2020
openaire   +1 more source

The case for structural reform in medical student research access. [PDF]

Am J Surg
Kabbani T, Eze AN, Greenberg JA, McElroy L.   +3 more
europepmc   +1 more source

Rethinking ethical governance of generative AI in sport pedagogy research: a discipline-sensitive perspective. [PDF]

Front Public Health
Tannoubi A, Geantă VA, Ardelean VP, Setiawan E, Azaiez F.   +4 more
europepmc   +1 more source

Occupational burden in the line of duty: Focus on firefighter musculoskeletal injuries. [PDF]

Work
Yamak B, Yildiz M.
europepmc   +1 more source

Distribution of Gastrointestinal and Dietary Risk Factors Among U.S. Adults Classified as Having Iron Deficiency Anemia Across Diagnostic Thresholds

American Journal of Hematology, EarlyView.
Omar Al Ta’ani, Bridget M. Mayrer, Nicole M. Luche, Shazia Mehmood Siddique, Scott A. Peslak, Timothy S. Anderson, Ravy K. Vajravelu   +6 more
wiley   +1 more source

Benefits and harms of copyright restrictions and conditions on burnout and other psychometric assessment scales. [PDF]

PLoS One
Badgett RG, Xirasagar S, Okut H.
europepmc   +1 more source

Scholarly editing around Europe

DiXiT, 2017
openaire   +2 more sources