Human asparagine synthetase associates with the mitotic spindle

بواسطة Chalongrat Noree, Elena Monfort, Vorasuk Shotelersuk
منشور في 2019

Human asparagine synthetase associates with the mitotic spindle

بواسطة Chalongrat Noree, Monfort, Elena, Vorasuk Shotelersuk
منشور في 2018

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

Precision medicine in Thailand

بواسطة Vorasuk Shotelersuk, Sissades Tongsima, Manop Pithukpakorn, Jakris Eu-ahsunthornwattana, Surakameth Mahasirimongkol
منشور في 2020

Cystinuria: Cause of recurrent renal stones in a 4-year-old girl

بواسطة Kanchana Tangnararatchakit, Watcharin Ariyaprakai, Wiwat Tapaneya-Olarn, Vorasuk Shotelersuk, Thanom Petchthong
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

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

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

Dosage Optimization of Efavirenz Based on a Population Pharmacokinetic–Pharmacogenetic Model of HIV-infected Patients in Thailand

بواسطة Piyawat Chaivichacharn, Anchalee Avihingsanon, Weerawat Manosuthi, Sasiwimol Ubolyam, Siraprapa Tongkobpetch, Vorasuk Shotelersuk, Baralee Punyawudho
منشور في 2020

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