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Last Updated: 10/31/2025
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Found 191 publications
Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and compromises extracellular matrix formation.
Journal: bioRxiv : the preprint server for biology
Published: February 03, 2025
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.
Journal: Frontiers in bioengineering and biotechnology
Published: November 12, 2024
Secondary Angle Closure Glaucoma in Weill-Marchesani Syndrome.
Journal: Diagnostics (Basel, Switzerland)
Published: August 18, 2024
Geleophysic dysplasia and Weill-Marchesani syndrome: ADAMTSL2 a possible common gene.
Journal: Ophthalmic genetics
Published: July 24, 2024
Transscleral fixation of intraocular lens in the treatment of lens subluxation in children
Journal: Vestnik oftalmologii
Published: July 04, 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
Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in FBN1 and a literature review.
Journal: Frontiers in pediatrics
Published: May 06, 2024
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
Microspherophakic Angle Closure Glaucoma in a Patient with Coffin-Siris Syndrome: Case Report.
Journal: The application of clinical genetics
Published: June 17, 2023
Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies.
Journal: Diagnostics (Basel, Switzerland)
Published: June 13, 2023
Last Updated: 10/31/2025