Results 271 to 280 of about 727,903 (338)
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova +10 more
wiley +1 more source
Democratic Backsliding Based on Illusions: Authoritarians' Biased Perception of Media Freedom Contributes to Their Political Support. [PDF]
Hadarics M.
europepmc +1 more source
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani +17 more
wiley +1 more source
The Role of Reproductive Injustice in the Access of Motherhood for Women With Intellectual Disabilities: A Narrative Literature Review. [PDF]
Mercerat C +7 more
europepmc +1 more source
ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler +5 more
wiley +1 more source
Elites' perceptions of women's representation in the Omani media. [PDF]
Al-Wahaibi S.
europepmc +1 more source

