GEMSS Syndrome Latest Advances

Find the Latest Research About GEMSS Syndrome

Last Updated: 09/19/2026

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Found 72 publications

Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients.

Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients.

Journal: European journal of pediatrics
Published: March 27, 2026

Ultra-high dose rate electron FLASH beam irradiation using a modified clinical linear accelerator.

Ultra-high dose rate electron FLASH beam irradiation using a modified clinical linear accelerator.

Journal: PloS one
Published: September 04, 2025

Longitudinal Association Between Psychotic-Like Experiences and New-Onset Mental Disorders in Late Adolescents.

Longitudinal Association Between Psychotic-Like Experiences and New-Onset Mental Disorders in Late Adolescents.

Journal: Journal of the American Academy of Child and Adolescent Psychiatry
Published: August 19, 2025

A novel homozygous ADAMTS10 frameshift variant in Weill-Marchesani syndrome in a Chinese family.

A novel homozygous ADAMTS10 frameshift variant in Weill-Marchesani syndrome in a Chinese family.

Journal: BMC medical genomics
Published: August 13, 2025

Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and skin phenotypes.

Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and skin phenotypes.

Journal: Life science alliance
Published: January 22, 2025

Determination of the genome-scale metabolic network of Bartonella quintana str. Toulouse to optimize growth for its use as chassis for synthetic biology.

Determination of the genome-scale metabolic network of Bartonella quintana str. Toulouse to optimize growth for its use as chassis for synthetic biology.

Journal: Frontiers in bioengineering and biotechnology
Published: November 12, 2024

Geleophysic dysplasia and Weill-Marchesani syndrome: ADAMTSL2 a possible common gene.

Geleophysic dysplasia and Weill-Marchesani syndrome: ADAMTSL2 a possible common gene.

Journal: Ophthalmic genetics
Published: July 24, 2024

Suture dehiscence in patients with connective tissue disease: Marfan and Weill-Marchesani syndromes.

Suture dehiscence in patients with connective tissue disease: Marfan and Weill-Marchesani syndromes.

Journal: Archivos de la Sociedad Espanola de Oftalmologia
Published: May 21, 2024

Reconstruction of the genome-scale metabolic network model of Sinorhizobium fredii CCBAU45436 for free-living and symbiotic states.

Reconstruction of the genome-scale metabolic network model of Sinorhizobium fredii CCBAU45436 for free-living and symbiotic states.

Journal: Frontiers in bioengineering and biotechnology
Published: January 27, 2024

Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.

Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.

Journal: Journal of medical genetics
Published: March 27, 2023

Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome.

Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome.

Journal: Experimental eye research
Published: March 26, 2023

Autosomal Dominant Weill-Marchesani-Like Syndrome in a Chinese Family due to Novel Haplotypic Mutations in LTBP2.

Autosomal Dominant Weill-Marchesani-Like Syndrome in a Chinese Family due to Novel Haplotypic Mutations in LTBP2.

Journal: Ophthalmic research
Published: March 11, 2023
Showing 1-12 of 72

Last Updated: 09/19/2026