Rong Yu

Changsha, 410013, China

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 16 publications

A rare mutation (p.Ala264Thr) of GATA4 is responsible for atrial septal defect and pulmonary valve stenosis.

A rare mutation (p.Ala264Thr) of GATA4 is responsible for atrial septal defect and pulmonary valve stenosis.

Journal: Scientific reports

Published: January 10, 2026

A de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.

A de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.

Journal: DNA and cell biology

Published: May 03, 2024

A novel mutation of Myotilin is associated with muscular dystrophy and postoperative respiratory failure.

A novel mutation of Myotilin is associated with muscular dystrophy and postoperative respiratory failure.

Journal: QJM : monthly journal of the Association of Physicians

Published: June 06, 2023

A de novo mutation (p.S1419F) of Retinoic acid induced 1 is responsible for a patient with Smith-Magenis syndrome exhibiting schizophrenia.

A de novo mutation (p.S1419F) of Retinoic acid induced 1 is responsible for a patient with Smith-Magenis syndrome exhibiting schizophrenia.

Journal: Gene

Published: July 10, 2022

Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Journal: Frontiers in cardiovascular medicine

Published: June 17, 2022

Haploinsufficiency of KCNAB3 causes sudden cardiac death through delayed inactivation of Kv1.5 channel upon depolarization and induced myocardial apoptosis.

Haploinsufficiency of KCNAB3 causes sudden cardiac death through delayed inactivation of Kv1.5 channel upon depolarization and induced myocardial apoptosis.

Journal: Genes & diseases

Published: April 11, 2022

Corrigendum to "Antioxidant Effect of Polygonatum sibiricum Polysaccharides in D-Galactose-Induced Heart Aging Mice".

Corrigendum to "Antioxidant Effect of Polygonatum sibiricum Polysaccharides in D-Galactose-Induced Heart Aging Mice".

Journal: BioMed research international

Published: May 22, 2021

Corrigendum: Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A.

Corrigendum: Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A.

Journal: Frontiers in neuroscience

Published: March 29, 2021

Antioxidant Effect of Polygonatum sibiricum Polysaccharides in D-Galactose-Induced Heart Aging Mice.

Antioxidant Effect of Polygonatum sibiricum Polysaccharides in D-Galactose-Induced Heart Aging Mice.

Journal: BioMed research international

Published: November 28, 2020

Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A.

Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A.

Journal: Frontiers in neuroscience

Published: September 10, 2020

MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome.

MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome.

Journal: BioMed research international

Published: February 26, 2020

Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.

Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.

Journal: BMC medical genetics

Published: May 16, 2019

Showing 1-12 of 16

Last Updated: 09/26/2026