Results 181 to 190 of about 13,290 (279)

Mosaicism for Cohen–Gibson Syndrome in a Female Individual With Overgrowth and Neurodevelopmental Delay

Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
Postzygotic EED mosaicism: c.1091G > T; p.(Trp364Leu) in a 12‐year‐old female with overgrowth–intellectual disability syndrome (Cohen–Gibson syndrome). Variant allele fractions: 31% blood, 30% saliva, 11%–17% buccal mucosa. This expands the spectrum of EED‐related disorders, highlighting mosaic screening for diagnosis, counselling, and future therapies.
Fei Song, Manuel Michels, Beate Betz, Walburga Vorhoff, Teresa Neuhann, Lisa Senninger, Dagmar Wieczorek   +6 more
wiley   +1 more source

EEF1D‐Associated Neurodevelopmental Disorders: Evidence From Iranian Siblings With a Biallelic Splice Junction Loss Variant

Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
We identified a novel homozygous variant (c.1489‐26_1493del) in EEF1D in an Iranian sibling with global developmental delay, intellectual disability, microcephaly, and failure to thrive. This likely pathogenic variant, absent in gnomAD v4, further supports EEF1D as a causative gene for autosomal recessive neurodevelopmental disorders, reinforcing ...
Maedeh Ganji, Arastoo Kaki, Mohammad Farid Mohammadi, Javad Behroozi, Seyed Mohammad Kahani, Behzad Rezaei, Afshin Fayazi, Pouria Mohammadi, Ali H. Bereshneh, Masoud Garshasbi   +9 more
wiley   +1 more source

Measuring morphogen transport over multiple spatial scales in live zebrafish embryos. [PDF]

Nat Commun
Nelanuthala AVS, Saha B, Sankaran J, Teh C, Carney TJ, Sampath K, Wohland T.   +6 more
europepmc   +1 more source

Identification of Variants in Two Families With Congenital Cataract by Whole Exome Sequencing

Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
We describe likely pathogenic missense variants causing congenital cataract and investigate these variants using high‐throughput gene sequencing, Sanger sequencing, bioinformatics, and computational biology tools. Our findings provide novel insights into the molecular diagnosis of congenital cataract and have important implications for genetic ...
Yazhou Huang, Xinwei Leng, Jibo Zhang, Xingxin Fang, Ting He, Lihua Zhou, Zhenkai Wu, Yuankun Wang, Dan Peng   +8 more
wiley   +1 more source

Cannabinoids rescue migraine symptoms caused by central CGRP administration in mice. [PDF]

Cephalalgia
Zorrilla E, Duong TL, Piña CL, Russo AF.   +3 more
europepmc   +1 more source

SQUINT [PDF]

Optometry and Vision Science, 1929
openaire   +1 more source

Perspectives in Pediatric Ambulatory Anesthesia: Part 2—One Center's 15 Year Experience Improving Quality and Safety Outcomes

Pediatric Anesthesia, Volume 36, Issue 10, Page 1196-1206, October 2026.
ABSTRACT Introduction Pediatric ambulatory surgery has become the dominant model of surgical care in the United States, driven primarily by economic forces. There is variability in regional practice patterns, quality improvement cycles, and outcomes. Opportunity exists to overcome knowledge gaps and provide sustainable pathways of quality improvement ...
Jennifer L. Chiem, Elizabeth E. Hansen, Kayla Reece, Samuel M. Vanderhoek, Sanjay R. Parikh, Paul A. Merguerian, Lynn D. Martin   +6 more
wiley   +1 more source

A high doppler tolerance and low side-lobe NLFM waveform optimization method for SAR application. [PDF]

Sci Rep
Yao K, Liu C.
europepmc   +1 more source

‘A simple outgrowth of the democracy’: Women's Suffrage, Democracy, and the Third Reform Act

Parliamentary History, Volume 45, Issue 3, Page 407-430, October 2026.
Abstract The 1884 Reform Act was a landmark in the history of British democracy, creating almost three million voters and bringing farm labourers, miners, and shipworkers cascading onto the register. Yet 1884 was also a moment of democratic exclusion.
Robert Saunders
wiley   +1 more source

Prenatal opioid exposure, and health, social and educational outcomes for school‐aged children: A systematic review

Addiction, Volume 121, Issue 10, Page 2633-2645, October 2026.
Abstract Background and aims Recent decades have seen a rise in the number of pregnancies exposed to opioids. Whilst evidence of the impact of such exposure on pregnancy and infant outcomes is fairly robust, the impact of prenatal opioid exposure (POE) on longer‐term outcomes for children and young people remains unclear.
Louise Marryat, Dawood Gashgari, Shona Shinwell, Vicky Mitchell, Catriona Connell, Gale Macleod, Senga Robertson, Anne Whittaker, Alison McFadden   +8 more
wiley   +1 more source