Ja H. Jang

Seoul, Republic of Korea

Last Updated: 09/26/2026

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Found 13 publications

A Case of Early-Onset Alzheimer's Disease Mimicking Schizophrenia in a Patient with Presenilin 1 Mutation (S170P).

A Case of Early-Onset Alzheimer's Disease Mimicking Schizophrenia in a Patient with Presenilin 1 Mutation (S170P).

Journal: Journal of Alzheimer's disease : JAD

Published: August 09, 2021

Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay.

Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay.

Journal: Frontiers in pediatrics

Published: May 07, 2020

The First Case of an Infant with Familial A20 Haploinsufficiency in Korea.

The First Case of an Infant with Familial A20 Haploinsufficiency in Korea.

Journal: Journal of Korean medical science

Published: September 20, 2019

Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.

Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.

Journal: Allergy, asthma & immunology research

Published: May 08, 2019

Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.

Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.

Journal: Frontiers in pediatrics

Published: October 17, 2018

Preparation and structural characterization of surface modified microporous bacterial cellulose scaffolds: A potential material for skin regeneration applications in vitro and in vivo.

Preparation and structural characterization of surface modified microporous bacterial cellulose scaffolds: A potential material for skin regeneration applications in vitro and in vivo.

Journal: International journal of biological macromolecules

Published: March 08, 2018

A Novel Inherited Mutation of SCN8A in a Korean Family with Benign Familial Infantile Epilepsy Using Diagnostic Exome Sequencing.

A Novel Inherited Mutation of SCN8A in a Korean Family with Benign Familial Infantile Epilepsy Using Diagnostic Exome Sequencing.

Journal: Annals of clinical and laboratory science

Published: December 22, 2017

Nano-gold assisted highly conducting and biocompatible bacterial cellulose-PEDOT:PSS films for biology-device interface applications.

Nano-gold assisted highly conducting and biocompatible bacterial cellulose-PEDOT:PSS films for biology-device interface applications.

Journal: International journal of biological macromolecules

Published: May 04, 2017

The first patient with sporadic X-linked intellectual disability with de novo ZDHHC9 mutation identified by targeted next-generation sequencing.

The first patient with sporadic X-linked intellectual disability with de novo ZDHHC9 mutation identified by targeted next-generation sequencing.

Journal: European journal of medical genetics

Published: March 17, 2017

Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy.

Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy.

Journal: European journal of medical genetics

Published: February 24, 2017

Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy.

Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy.

Journal: Annals of laboratory medicine

Published: October 24, 2016

Prognosis of Variant Angina Manifesting as Aborted Sudden Cardiac Death.

Prognosis of Variant Angina Manifesting as Aborted Sudden Cardiac Death.

Journal: Journal of the American College of Cardiology

Published: February 29, 2016

Showing 1-12 of 13

Last Updated: 09/26/2026