Polysyndactyly Cardiac Malformation Latest Advances

Find the Latest Research About Polysyndactyly Cardiac Malformation

Last Updated: 02/24/2026

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Found 419 publications

KCNQ1 and GJA1 Variants Associated With Arrhythmogenic Right Ventricular Cardiomyopathy With a Lethal Outcome.

KCNQ1 and GJA1 Variants Associated With Arrhythmogenic Right Ventricular Cardiomyopathy With a Lethal Outcome.

Journal: JACC. Case reports
Published: June 19, 2025

A pictorial essay of thoracic wall diseases: multiple pathologies in the same anatomical site.

A pictorial essay of thoracic wall diseases: multiple pathologies in the same anatomical site.

Journal: Insights into imaging
Published: June 05, 2025

Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.

Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.

Journal: Dermatopathology (Basel, Switzerland)
Published: April 14, 2025

Evaluation of CACNA1C-Positive Patients Evaluated in a Tertiary Genetic Heart Rhythm Clinic.

Evaluation of CACNA1C-Positive Patients Evaluated in a Tertiary Genetic Heart Rhythm Clinic.

Journal: Journal of cardiovascular translational research
Published: February 28, 2025

Disruptions in primary visual cortex physiology and function in a mouse model of Timothy syndrome.

Disruptions in primary visual cortex physiology and function in a mouse model of Timothy syndrome.

Journal: Cerebral cortex (New York, N.Y. : 1991)
Published: December 20, 2024

Unilateral amelia with limb deformities and multiple congenital malformations in a newborn: a case report from Palestine.

Unilateral amelia with limb deformities and multiple congenital malformations in a newborn: a case report from Palestine.

Journal: Annals of medicine and surgery (2012)
Published: November 04, 2024

Presurgical Nasal Molding in a Bilateral Cleft Lip and Palate Patient with Patau Syndrome Using a Novel Bhatia's Hook: A Case Report.

Presurgical Nasal Molding in a Bilateral Cleft Lip and Palate Patient with Patau Syndrome Using a Novel Bhatia's Hook: A Case Report.

Journal: International journal of clinical pediatric dentistry
Published: October 23, 2024

Biphasic effects on human atrial arrhythmogenicity of L-type calcium channel mutations associated with a Brugada/Short QT overlap syndrome - insights from a multiscale simulation study.

Biphasic effects on human atrial arrhythmogenicity of L-type calcium channel mutations associated with a Brugada/Short QT overlap syndrome - insights from a multiscale simulation study.

Journal: PLoS computational biology
Published: October 11, 2024

Knock-in swine model reveals new arrhythmia mechanism in Timothy syndrome.

Knock-in swine model reveals new arrhythmia mechanism in Timothy syndrome.

Journal: Nature cardiovascular research
Published: August 28, 2024

Synaptic plasticity deficits in a mouse model of Timothy syndrome: LTP saturation and its pharmacological rescue by nifedipine.

Synaptic plasticity deficits in a mouse model of Timothy syndrome: LTP saturation and its pharmacological rescue by nifedipine.

Journal: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
Published: August 26, 2024

Clinical Presentation and Co-Morbidities in Bardet-Biedel Syndrome: Case Series from a Single Centre.

Clinical Presentation and Co-Morbidities in Bardet-Biedel Syndrome: Case Series from a Single Centre.

Journal: Indian journal of endocrinology and metabolism
Published: July 23, 2024

A genetic rescue strategy for Timothy syndrome.

A genetic rescue strategy for Timothy syndrome.

Journal: Nature biotechnology
Published: May 17, 2024
Showing 1-12 of 419

Last Updated: 02/24/2026