A somatic pik3ca p.h1047l mutation in a Thai patient with isolated macrodactyly: A case report

بواسطة Wandee Udomchaiprasertkul, Pravit Kitidumrongsook, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2020

Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes

بواسطة Chureerat Phokaew, Rekwan Sittiwangkul, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2020

Short stature, platyspondyly, hip dysplasia, and retinal detachment: An atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: A case repo...

بواسطة Apiruk Sangsin, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2018

Two novel EBP mutations in Conradi-Hünermann-Happle syndrome

بواسطة Surasawadee Ausavarat, Pranoot Tanpaiboon, Siraprapa Tongkobpetch, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2018

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

بواسطة Chulaluck Kuptanon, Chalurmpon Srichomthong, Apiruk Sangsin, Dool Kovitvanitcha, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2018

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

بواسطة Apiruk Sangsin, Chulaluck Kuptanon, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2018

A novel de novo COL1A1 mutation in a thai boy with osteogenesis im perfecta born to consanguineous parents

بواسطة Siraprapa Tongkobpetch, Noppachart Limpaphayom, Apiruk Sangsin, Thantrira Porntaveetus, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2018

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

بواسطة Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2018

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

بواسطة Apiruk Sangsin, Chulaluck Kuptanon, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2018

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

بواسطة Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2018

A novel de novo COL1A1 mutation in a thai boy with osteogenesis im perfecta born to consanguineous parents

بواسطة Siraprapa Tongkobpetch, Noppachart Limpaphayom, Apiruk Sangsin, Thantrira Porntaveetus, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2018

A Novel GNAS Mutation Causing Isolated Infantile Cushing's Syndrome

بواسطة Prapai Dejkhamron, Chupong Ittiwut, Hataitip Tangngam, Kanokkarn Sunkonkit, Rungrote Natesirinilkul, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2019

Discrepancy in the degree of polycythemia in a family with a novel nonsense EPOR mutation

بواسطة Chitsanupong Ratarat, Chupong Ittiwut, Rungrote Natesirinilkul, Lalita Sathitsamitpong, Kanda Fanhchaksai, Pimlak Charoenkwan, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2019

A common and two novel GBA mutations in Thai patients with Gaucher disease

بواسطة Rachaneekorn Tammachote, Siraprapa Tongkobpetch, Chalurmpon Srichomthong, Kampon Phipatthanananti, Suthipong Pungkanon, Duangrurdee Wattanasirichaigoon, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2018

Congenital myasthenic syndromes in the Thai population: Clinical findings and novel mutations

بواسطة Nalinee Pattrakornkul, Chupong Ittiwut, Ponghatai Boonsimma, Kanokwan Boonyapisit, Chaiyos Khongkhatithum, Oranee Sanmaneechai, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2020

Association between HLA-B ^∗ 44:03-HLA-C ^∗ 07:01 haplotype and cold medicine-related Stevens-Johnson syndrome with severe ocular complications in Thailand

بواسطة Passara Jongkhajornpong, Kaevalin Lekhanont, Phattrawan Pisuchpen, Patchima Chantaren, Vilavun Puangsricharern, Pinnita Prabhasawat, Kanya Suphapeetiporn, Shigeru Kinoshita, Mayumi Ueta
منشور في 2019

Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development

بواسطة Chupong Ittiwut, Jaturong Pratuangdejkul, Vichit Supornsilchai, Sasipa Muensri, Yodporn Hiranras, Taninee Sahakitrungruang, Suttipong Watcharasindhu, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2018

Association of IKZF1 SNPs in cold medicine-related Stevens-Johnson syndrome in Thailand

بواسطة Patchima Chantaren, Passara Jongkhajornpong, Mayumi Ueta, Vilavun Puangsricharern, Kaevalin Lekhanont, Phattrawan Pisuchpen, Pinnita Prabhasawat, Kanya Suphapeetiporn, Shigeru Kinoshita
منشور في 2020

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

بواسطة Chupong Ittiwut, Rungrote Natesirinilkul, Fuanglada Tongprasert, Lalita Sathitsamitphong, Chane Choed-amphai, Kanda Fanhchaksai, Pimlak Charoenkwan, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2018

Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions

بواسطة Chupong Ittiwut, Wiparat Manuyakorn, Siraprapa Tongkobpetch, Suwat Benjaponpitak, Megan R. Fisher, Joshua D. Milner, Jonathan J. Lyons, Kanya Suphapeetiporn, Vorasuk Shotelersuk
منشور في 2020