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1

Human asparagine synthetase associates with the mitotic spindle

by Chalongrat Noree, Elena Monfort, Vorasuk Shotelersuk
Published 2019

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2

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

by Wandee Udomchaiprasertkul, Pravit Kitidumrongsook, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2020

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3

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

by Chureerat Phokaew, Rekwan Sittiwangkul, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2020

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4

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...

by Apiruk Sangsin, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2018

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5

Two novel EBP mutations in Conradi-Hünermann-Happle syndrome

by Surasawadee Ausavarat, Pranoot Tanpaiboon, Siraprapa Tongkobpetch, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2018

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6

Precision medicine in Thailand

by Vorasuk Shotelersuk, Sissades Tongsima, Manop Pithukpakorn, Jakris Eu-ahsunthornwattana, Surakameth Mahasirimongkol
Published 2020

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7

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

by Kanchana Tangnararatchakit, Watcharin Ariyaprakai, Wiwat Tapaneya-Olarn, Vorasuk Shotelersuk, Thanom Petchthong
Published 2018

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8

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

by Chulaluck Kuptanon, Chalurmpon Srichomthong, Apiruk Sangsin, Dool Kovitvanitcha, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2018

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9

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

by Apiruk Sangsin, Chulaluck Kuptanon, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2018

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10

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

by Siraprapa Tongkobpetch, Noppachart Limpaphayom, Apiruk Sangsin, Thantrira Porntaveetus, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2018

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11

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

by Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2018

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12

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

by Apiruk Sangsin, Chulaluck Kuptanon, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2018

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13

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

by Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2018

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14

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

by Siraprapa Tongkobpetch, Noppachart Limpaphayom, Apiruk Sangsin, Thantrira Porntaveetus, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2018

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15

A Novel GNAS Mutation Causing Isolated Infantile Cushing's Syndrome

by Prapai Dejkhamron, Chupong Ittiwut, Hataitip Tangngam, Kanokkarn Sunkonkit, Rungrote Natesirinilkul, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2019

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16

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

by Piyawat Chaivichacharn, Anchalee Avihingsanon, Weerawat Manosuthi, Sasiwimol Ubolyam, Siraprapa Tongkobpetch, Vorasuk Shotelersuk, Baralee Punyawudho
Published 2020

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17

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

by Chitsanupong Ratarat, Chupong Ittiwut, Rungrote Natesirinilkul, Lalita Sathitsamitpong, Kanda Fanhchaksai, Pimlak Charoenkwan, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2019

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18

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

by Rachaneekorn Tammachote, Siraprapa Tongkobpetch, Chalurmpon Srichomthong, Kampon Phipatthanananti, Suthipong Pungkanon, Duangrurdee Wattanasirichaigoon, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2018

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19

Concurrent bilateral pheochromocytoma and thoracic paraganglioma during pregnancy

by Thiti Snabboon, Wanee Plengpanich, Natnicha Houngngam, Patinut Buranasupkajorn, Nattachet Plengvidhya, Wisan Sereepapong, Sarat Sunthornyothin, Vorasuk Shotelersuk
Published 2018

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20

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

by Nalinee Pattrakornkul, Chupong Ittiwut, Ponghatai Boonsimma, Kanokwan Boonyapisit, Chaiyos Khongkhatithum, Oranee Sanmaneechai, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2020

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