Polysyndactyly Cardiac Malformation Latest Advances

POGLUT2 and POGLUT3: Two essential protein O-glucosyltransferases modifying EGF repeats in extracellular matrix proteins.

Journal: Biochimica et biophysica acta. General subjects

Published: January 24, 2026

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early-Onset Monogenic Disorders.

Journal: Prenatal diagnosis

Published: August 11, 2025

Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study.

Journal: Journal of cardiothoracic surgery

Published: August 08, 2025

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.

Journal: Insights into imaging

Published: June 05, 2025

Poland Syndrome With Dextrocardia: A Rare Association Leading to Complex Cardiopulmonary Challenges.

Journal: Clinical case reports

Published: May 06, 2025

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.

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.

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.

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.

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.

Journal: PLoS computational biology

Published: October 11, 2024

Polysyndactyly Cardiac Malformation Latest Advances

Find the Latest Research About Polysyndactyly Cardiac Malformation

POGLUT2 and POGLUT3: Two essential protein O-glucosyltransferases modifying EGF repeats in extracellular matrix proteins.

POGLUT2 and POGLUT3: Two essential protein O-glucosyltransferases modifying EGF repeats in extracellular matrix proteins.

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early-Onset Monogenic Disorders.

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early-Onset Monogenic Disorders.

Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study.

Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study.

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.

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.

Poland Syndrome With Dextrocardia: A Rare Association Leading to Complex Cardiopulmonary Challenges.

Poland Syndrome With Dextrocardia: A Rare Association Leading to Complex Cardiopulmonary Challenges.

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.

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.

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.

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.

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.

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.