Results 171 to 180 of about 659,529 (295)

TMEM16A chloride channels in the female reproductive tract and their role in normal and dysfunctional pregnancy and labour

open access: yesThe Journal of Physiology, EarlyView.
Abstract figure legend TMEM16A plays a pivotal role in setting the duration of the action potential plateau in human uterine smooth muscle. An increase in TMEM16A expression in labour underpins a lengthening of the plateau and this provides time for the contraction to become larger and longer, important for timely successful labour.
Helena C. Parkington   +4 more
wiley   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2331-2337, October 2026.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli   +11 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

Diagnosis and Treatment of Ectopic Pregnancy in a Cesarean Section Scar-Case Report. [PDF]

open access: yesJ Clin Med
Kulabukhova PV   +4 more
europepmc   +1 more source

Sonographic evaluation of ectopic pregnancy

open access: yes
Ectopic pregnancy is a high-risk condition that occurs in 1.9% of reported pregnancies. Although the clinical triad of pain, bleeding, and amenorrhea is considered very specific for an ectopic pregnancy, ultrasound plays important role in detecting the ...
Bhatt, Shweta
core  

Gene therapy for hereditary deafness: Progress, challenges and translational implications from OTOF to GJB2

open access: yesClinical and Translational Discovery, Volume 6, Issue 5, October 2026.
Current Management & Limitations: Traditional auditory devices lack genetic curative potential and yield variable, non‐physiological hearing outcomes. OTOF gene therapy has shown promising clinical outcomes with dual‐AAV therapy. GJB2 gene therapy remains an emerging approach with significant translational challenges. Advances in vector design and cell‐
Jiahui Zhao, Mengzhao Xun, Yu Sun
wiley   +1 more source

Ultrasound Archiving in the Emergency Department: Implementation, Governance and 4‐Year Outcomes at an Australian Tertiary Emergency Department

open access: yesEmergency Medicine Australasia, Volume 38, Issue 5, October 2026.
ABSTRACT Objective Image archiving is one of the least developed aspects of emergency department ultrasound (ED‐US) in Australasia, despite its recognised role in governance, education, quality assurance (QA) and medicolegal protection. A middleware‐based ED‐US image workflow solution was installed at Nepean Hospital ED in October 2021. We describe our
Vijay Manivel   +3 more
wiley   +1 more source

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