Achalasia Microcephaly Syndrome Latest Advances

Occipital Needle-Like Spikes in a Visually Intact Child with Dystonia: Insights from Ambulatory EEG.

Journal: The Neurodiagnostic journal

Published: January 22, 2026

Neuro-ophthalmic disorders resulting from defects in the gamma tubulin ring complex: a clinically oriented review.

Journal: Ophthalmic genetics

Published: January 21, 2026

Pannexin-1 channel activity regulates neurogenesis and cell survival in the developing cortex.

Journal: bioRxiv : the preprint server for biology

Published: January 16, 2026

Novel variant in FGFR2 in a family with anterior segment anomalies.

Journal: Ophthalmic genetics

Published: January 05, 2026

Clinical and genetic analysis of a child with X-linked Hoyeraal-Hreidarsson syndrome due to variant of DKC1 gene and a literature review

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: December 26, 2025

Functional characterization of a clinically significant variant of IGF1R (M1054I) - a critical residue involved in defining the binding of small molecules in the allosteric pocket of IGF1R.

Journal: Growth factors (Chur, Switzerland)

Published: December 26, 2025

Differential Analysis of Neonatal Adverse Drug Events from Intrauterine and Extrauterine Exposure: Insights into Administration Routes Using the FAERS Database.

Journal: Zeitschrift fur Geburtshilfe und Neonatologie

Published: December 22, 2025

TAPT1 interacts with SUCO to maintain the homeostasis of newly synthesized proteins and brain development in mice.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: December 11, 2025

Filippi syndrome-associated CKAP2L modulates microtubule dynamics essential for mitosis and ciliary length regulation.

Journal: Journal of molecular cell biology

Published: December 10, 2025

NOC4L coordinates neuronal and pharyngeal arch development by regulating ribosome biogenesis.

Journal: Journal of molecular cell biology

Published: December 08, 2025

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Journal: medRxiv : the preprint server for health sciences

Published: December 03, 2025

L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers.

Journal: Molecular genetics and metabolism

Published: November 28, 2025