Chulaluck Kuptanon

Chulaluck Kuptanon

UNVERIFIED PROFILE

Are you Chulaluck Kuptanon?   Register this Author

Register author
Chulaluck Kuptanon

Chulaluck Kuptanon

Publications by authors named "Chulaluck Kuptanon"

Are you Chulaluck Kuptanon?   Register this Author

14Publications

314Reads

13Profile Views

Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities.

Gene 2019 May 14;696:21-27. Epub 2019 Feb 14.

Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok 10330, Thailand.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2019.01.049DOI Listing
May 2019

The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report.

BMC Med Genet 2018 07 16;19(1):117. Epub 2018 Jul 16.

Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12881-018-0639-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6048891PMC
July 2018

Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report.

BMC Med Genet 2017 Mar 4;18(1):25. Epub 2017 Mar 4.

Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12881-017-0384-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5336636PMC
March 2017

Glutaric aciduria type 2, late onset type in Thai siblings with myopathy.

Pediatr Neurol 2010 Oct;43(4):279-82

Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2010.05.018DOI Listing
October 2010

Organic acid disorders detected by urine organic acid analysis: twelve cases in Thailand over three-year experience.

Clin Chim Acta 2008 Jun 23;392(1-2):63-8. Epub 2008 Feb 23.

Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cca.2008.02.015DOI Listing
June 2008