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Publications by Chupong Ittiwut

Novel Mutations in SPTA1 and SPTB Identified by Whole Exome Sequencing in Eight Thai Families With Hereditary Pyropoikilocytosis Presenting With Severe Fetal and Neonatal Anaemia

British Journal of Haematology

Hematology

2018

English

Related publications

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

PLoS ONE

Multidisciplinary

2013

English

Identification of Novel EXT Mutations in Patients With Hereditary Multiple Exostoses Using Whole-Exome Sequencing

English

Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

English

Whole Exome Sequencing Identified Novel CRB1 Mutations in Chinese and Indian Populations With Autosomal Recessive Retinitis Pigmentosa

Scientific Reports

Multidisciplinary

2016

English

Identification of CDH23 Mutations in Korean Families With Hearing Loss by Whole-Exome Sequencing

BMC Medical Genetics

Genetics

2014

English

Whole-Exome Sequencing Identifies Causative Mutations in Families With Congenital Anomalies of the Kidney and Urinary Tract

Journal of the American Society of Nephrology : JASN

Medicine

Nephrology

2018

English

Whole Exome Sequencing Identified Sixty-Five Coding Mutations in Four Neuroblastoma Tumors

Scientific Reports

Multidisciplinary

2017

English

P05.10: Using Whole-Exome Sequencing in Prenatal Diagnosis of Severe Fetal Abnormalities

Ultrasound in Obstetrics and Gynecology

Nuclear Medicine

Radiology

Ultrasound Technology

Gynecology

Reproductive Medicine

English

A Rare ANOS1 Variant in Siblings With Kallmann Syndrome Identified by Whole Exome Sequencing

Andrology

Endocrinology

Reproductive Medicine

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Chupong Ittiwut

Novel Mutations in SPTA1 and SPTB Identified by Whole Exome Sequencing in Eight Thai Families With Hereditary Pyropoikilocytosis Presenting With Severe Fetal and Neonatal Anaemia

Related publications

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

Identification of Novel EXT Mutations in Patients With Hereditary Multiple Exostoses Using Whole-Exome Sequencing

Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing

Whole Exome Sequencing Identified Novel CRB1 Mutations in Chinese and Indian Populations With Autosomal Recessive Retinitis Pigmentosa

Identification of CDH23 Mutations in Korean Families With Hearing Loss by Whole-Exome Sequencing

Whole-Exome Sequencing Identifies Causative Mutations in Families With Congenital Anomalies of the Kidney and Urinary Tract

Whole Exome Sequencing Identified Sixty-Five Coding Mutations in Four Neuroblastoma Tumors

P05.10: Using Whole-Exome Sequencing in Prenatal Diagnosis of Severe Fetal Abnormalities

A Rare ANOS1 Variant in Siblings With Kallmann Syndrome Identified by Whole Exome Sequencing