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Last Updated: 01/07/2026

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Found 210 publications

The evolving genetic landscape of neuromuscular fetal akinesias.

The evolving genetic landscape of neuromuscular fetal akinesias.

Journal: Journal of neuromuscular diseases
Published: May 13, 2025

Novel heterozygous mutation in MYH3 causes contractures, pterygia, and spondylocarpostarsal fusion syndrome 1: A case report.

Novel heterozygous mutation in MYH3 causes contractures, pterygia, and spondylocarpostarsal fusion syndrome 1: A case report.

Journal: Medicine
Published: February 18, 2025

Bruck syndrome in pregnancy.

Bruck syndrome in pregnancy.

Journal: BMJ case reports
Published: September 10, 2024

Multiple Pterygium Syndrome (Escobar Syndrome): A Rare Form of Prenatal Myasthenia Presenting With Arthrogryposis Multiplex Congenita.

Multiple Pterygium Syndrome (Escobar Syndrome): A Rare Form of Prenatal Myasthenia Presenting With Arthrogryposis Multiplex Congenita.

Journal: Neurology
Published: June 13, 2024

Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.

Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.

Journal: Prenatal diagnosis
Published: September 29, 2023

Recombinant cellular model system for human muscle-type nicotinic acetylcholine receptor α12β1δε.

Recombinant cellular model system for human muscle-type nicotinic acetylcholine receptor α12β1δε.

Journal: Cell stress & chaperones
Published: August 21, 2023

FMRI Complexity Correlates with Tau-PET and Cognitive Decline in Late-Onset and Autosomal Dominant Alzheimer's Disease.

FMRI Complexity Correlates with Tau-PET and Cognitive Decline in Late-Onset and Autosomal Dominant Alzheimer's Disease.

Journal: Journal of Alzheimer's disease : JAD
Published: August 21, 2023

Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.

Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.

Journal: Clinical genetics
Published: July 04, 2023

Analysis of a case of Multiple pterygium syndrome due to a novel variant of CHRNG gene

Analysis of a case of Multiple pterygium syndrome due to a novel variant of CHRNG gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: May 22, 2023

Lethal multiple pterygium syndrome in a newborn, a case report.

Lethal multiple pterygium syndrome in a newborn, a case report.

Journal: Clinical case reports
Published: March 25, 2023

A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes.

A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes.

Journal: Genes
Published: February 12, 2023

Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis.

Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis.

Journal: Frontiers in pediatrics
Published: January 27, 2023
Showing 1-12 of 210

Last Updated: 01/07/2026