Kanya Suphapeetiporn, Ph.D.
Affiliations: | 2002 | Yale University, New Haven, CT |
Area:
Genetics, OncologyGoogle:
"Kanya Suphapeetiporn"Parents
Sign in to add mentor| 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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| Kor-Anantakul P, Chen HL, Chen YH, et al. (2024) Novel PLEC variants associated with infantile cholestasis. Clinical Genetics |
| Wacharasindhu S, Ittiwut C, Ittiwut R, et al. (2023) A Novel Mutation in a Thai Boy with 46, XY DSD. Journal of Pediatric Genetics. 13: 181-184 |
| Lauhasurayotin S, Moonla C, Ittiwut R, et al. (2023) Genetic variations of type 2 and type 3 von Willebrand diseases in Thailand. Journal of Clinical Pathology |
| 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 |