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Last Updated: 01/07/2026

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Found 2774 publications

Ovarian Hormones Moderate Systolic Hypertension in Female Eln Haploinsufficient Mice.

Ovarian Hormones Moderate Systolic Hypertension in Female Eln Haploinsufficient Mice.

Journal: bioRxiv : the preprint server for biology
Published: December 03, 2025

Comparing evidence-based telemental health treatments for caregivers of children with Prader Willi and Williams syndromes: feasibility, acceptability, and preliminary outcomes.

Comparing evidence-based telemental health treatments for caregivers of children with Prader Willi and Williams syndromes: feasibility, acceptability, and preliminary outcomes.

Journal: Cognitive behaviour therapy
Published: November 20, 2025

Successful transcatheter stent intervention of peripheral pulmonary artery atenosis in Williams-Beuren syndrome.

Successful transcatheter stent intervention of peripheral pulmonary artery atenosis in Williams-Beuren syndrome.

Journal: The Journal of invasive cardiology
Published: October 10, 2025

A Del(5Ncf1-Fkbp6) mouse model of Williams syndrome shows coronary, aortic, and cerebral vascular abnormalities with behavioral deficits.

A Del(5Ncf1-Fkbp6) mouse model of Williams syndrome shows coronary, aortic, and cerebral vascular abnormalities with behavioral deficits.

Journal: PNAS nexus
Published: October 07, 2025

Psychopharmacology Clinical Trial Recruitment Challenges in Neurogenetic Syndromes: Lessons from an Open-Label Trial of Fluoxetine in Down Syndrome.

Psychopharmacology Clinical Trial Recruitment Challenges in Neurogenetic Syndromes: Lessons from an Open-Label Trial of Fluoxetine in Down Syndrome.

Journal: Journal of child and adolescent psychopharmacology
Published: September 22, 2025

Dissecting the Genetic Contribution of Tooth Agenesis.

Dissecting the Genetic Contribution of Tooth Agenesis.

Journal: International journal of molecular sciences
Published: September 18, 2025

Translation and cross-cultural adaptation of a questionnaire for assessing hyperacusis in Williams syndrome.

Translation and cross-cultural adaptation of a questionnaire for assessing hyperacusis in Williams syndrome.

Journal: Arquivos de neuro-psiquiatria
Published: September 08, 2025

Clinical and Genetic Characterization of Noonan Syndrome in a Romanian Cohort from Transylvania: Details on PTPN11 c.922A>G Variant and Phenotypic Spectrum.

Clinical and Genetic Characterization of Noonan Syndrome in a Romanian Cohort from Transylvania: Details on PTPN11 c.922A>G Variant and Phenotypic Spectrum.

Journal: Diagnostics (Basel, Switzerland)
Published: August 26, 2025

Brain Monoamine Deficits in the CD Mouse Model of Williams-Beuren Syndrome.

Brain Monoamine Deficits in the CD Mouse Model of Williams-Beuren Syndrome.

Journal: Biomolecules
Published: August 25, 2025

Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.

Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.

Journal: BMJ case reports
Published: August 08, 2025

Attention skills, learning and academic abilities in children and adolescents with genetic disorders: a systematic review.

Attention skills, learning and academic abilities in children and adolescents with genetic disorders: a systematic review.

Journal: Frontiers in psychology
Published: July 31, 2025

Characterizing Periprocedural Care for Pediatric Patients With Williams Syndrome Undergoing General Anesthesia at a Tertiary Pediatric Hospital.

Characterizing Periprocedural Care for Pediatric Patients With Williams Syndrome Undergoing General Anesthesia at a Tertiary Pediatric Hospital.

Journal: AANA journal
Published: July 31, 2025
Showing 1-12 of 2,774

Last Updated: 01/07/2026