Kanya Suphapeetiporn, Ph.D.

Affiliations: 
2002 Yale University, New Haven, CT 
Area:
Genetics, Oncology
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"Kanya Suphapeetiporn"

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Allen E. Bale grad student 2002 Yale
 (Functional studies of the multiple endocrine neoplasia type 1 (MEN1) gene.)
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Publications

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Sinthuwiwat T, Buranapraditkun S, Kamolvisit W, et al. (2022) A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases. Scientific Reports. 12: 15420
Kuptanon C, Thamkunanon V, Srichomthong C, et al. (2022) Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta. Clinical Genetics
Ittiwut R, Sengpanich K, Lauhasurayotin S, et al. (2020) Clinical and molecular characteristics of Thai patients with related neutropaenia. Journal of Clinical Pathology
Mekchay P, Ittiwut C, Ittiwut R, et al. (2020) Whole exome sequencing for diagnosis of hereditary thrombocytopenia. Medicine. 99: e23275
Ittiwut C, Poonmaksatit S, Boonsimma P, et al. (2020) Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability. Brain & Development
Rojnueangnit K, Maneechai P, Thaweekul P, et al. (2020) Expanding phenotypic and mutational spectra of mitochondrial HMG-CoA synthase deficiency. European Journal of Medical Genetics. 63: 104086
Pattrakornkul N, Ittiwut C, Boonsimma P, et al. (2020) Congenital myasthenic syndromes in the Thai population: Clinical findings and novel mutations. Neuromuscular Disorders : Nmd
Choed-Amphai C, Phusua A, Ittiwut C, et al. (2020) Coinherited Hemoglobin H/Constant Spring Disease and Heterozygous Hemoglobin Tak Causing Severe Hemolytic Anemia in a Thai Boy. Journal of Pediatric Hematology/Oncology
Phokaew C, Sittiwangkul R, Suphapeetiporn K, et al. (2020) Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes. European Journal of Medical Genetics. 63: 103982
Suratannon N, van Wijck RTA, Broer L, et al. (2020) Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency. Frontiers in Immunology. 11: 614
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