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Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2025

Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.

Scientific reports·2021

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.

Clinical genetics·2017

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.

Journal of autism and developmental disorders·2016

Three dimensional rotational angiography imaging of double aortic arch vascular ring.

Images in paediatric cardiology·2013

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.

American journal of medical genetics. Part A·2010

Nuclear receptor Nur77 resolves the inflammatory response of macrophages primarily by regulating expression of AP-1 transcription factors and their target genes.

Nucleic acids research·2026

When circular RNAs meet the genome: CiR-loops as chromatin regulators and disease drivers.

Nucleic acids research·2026

SpliceImpactR maps alternative RNA processing events driving protein functional diversity.

Nucleic acids research·2026

The leading region of many plasmids is adapted for translational efficiency.

Nucleic acids research·2026

Binary-SPA: a reference-free method for cell annotation in high-resolution spatial transcriptomics.

Nucleic acids research·2026

DeepPNI: a language- and graph-based model for mutation-driven protein-nucleic acid binding energetics.

Nucleic acids research·2026

Chlamydia trachomatis incidence in relation to vaginal microbiota dynamics, immunogenetics and exposures in a cohort of young student women in France.

The Journal of infectious diseases·2026

Exosome-Related Pathogenic Genes in Adenomyosis: A Multi-Omics Mendelian Randomization Study.

Omics : a journal of integrative biology·2026

Cognitive performance and neuroimaging markers across the glycemic spectrum in multiethnic Asian older adults.

Journal of internal medicine·2026

Early pregnancy fasting plasma glucose and risk factors: impact on gestational diabetes mellitus and other adverse perinatal outcomes in singleton and twin pregnancies.

Frontiers in medicine·2026

Integrative analysis of gut microbiota, plasma metabolome, and gene expression identifies causal mediators in Graves' disease pathogenesis.

Frontiers in microbiology·2026

A single-cell transcriptomic atlas of the periventricular proliferative zone in the late gestation fetal brain in the pigtail macaque.

Frontiers in neuroscience·2026

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