Nithiwat Vatanavicharn

基本信息

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职业迁徙

个人简介

I am a pediatrician and clinical geneticist. My research interests are inborn errors of metabolism, skeletal dysplasias, and dysmorphology.

研究兴趣

论文共 46 篇作者统计合作学者相似作者

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Homozygosity for a Rare PLEC Variant Suggests a Contributory Role in Congenital Insensitivity to Pain

Piranit Kantaputra,Teerada Daroontum, Kantapong Kitiyamas,Panat Piyakhunakorn,Katsushige Kawasaki,Achara Sathienkijkanchai,Pornswan Wasant,Nithiwat Vatanavicharn,Thippawan Yasanga,Massupa Kaewgahya,Sissades Tongsima,Timothy C. Cox,Stefan T. Arold,Atsushi Ohazama,Chumpol Ngamphiw

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCESno. 12 (2024)

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Genetic, Metabolic and Clinical Delineation of an MRPS23 -Associated Mitochondrial Disorder

Chupong Ittiwut,Rungnapa Ittiwut,Chulaluck Kuptanon,Tetsuro Matsuhashi,Masaru Shimura,Yohei Sugiyama,Takanori Onuki,Akira Ohtake,Kei Murayama,Nithiwat Vatanavicharn, Waralee Dejputtawat, Nitchanund Tantisirivit,Phawin Kor-anantakul,Wuttichart Kamolvisit,Kanya Suphapeetiporn,Vorasuk Shotelersuk

Scientific Reportsno. 1 (2023)

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Phenotypic and Molecular Features of Thai Patients with Primary Carnitine Deficiency

Somporn Liammongkolkul,Boonchai Boonyawat,Chodchanok Vijarnsorn,Thipwimol Tim-Aroon,Pornswan Wasant,Nithiwat Vatanavicharn

PEDIATRICS INTERNATIONALno. 1 (2023)

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Multisuture craniosynostosis: a case report of unusual presentation of chromosome 14q32 deletion

Sarut Chaisrisawadisuk,Nithiwat Vatanavicharn,Inthira Khampalikit,Mark H. Moore

Childs Nerv Syst（2022）

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Bilateral Squamosal Synostosis: Unusual Presentation of Chromosome 1p12–1p13.3 Deletion. Illustrative Case

Sarut Chaisrisawadisuk,Nithiwat Vatanavicharn,Verayuth Praphanphoj,Peter J Anderson,Mark H Moore

Journal of neurosurgery Case lessonsno. 3 (2021): CASE20102-CASE20102

引用2浏览0WOS引用

Molecular Characterization of Thai Patients with Phenylalanine Hydroxylase Deficiency and in Vitro Functional Study of Two Novel PAH Variants

Ngiwsara Lukana,Vatanavicharn Nithiwat,Sawangareetrakul Phannee,Liammongkolkul Somporn,Ratanarak Pisanu,Boonyawat Boonchai,Srisomsap Chantragan,Champattanachai Voraratt, School of Biochemistry, Institute of Science, Suranaree University of Technology,Wasant Pornswan,Svasti Jisnuson

Molecular biology reports（2021）

引用1浏览0WOS引用

Infantile Onset Sandhoff Disease: Clinical Manifestation and a Novel Common Mutation in Thai Patients

Tim-Aroon Thipwimol,Wichajarn Khunton,Katanyuwong Kamornwan,Tanpaiboon Pranoot,Vatanavicharn Nithiwat, College of Medicine, Rangsit University, Kongkrapan Arthaporn,Eu-ahsunthornwattana Jakris,Thongpradit Supranee,Moolsuwan Kanya,Satproedprai Nusara,Mahasirimongkol Surakameth,Lerksuthirat Tassanee,Mahidol University,Wattanasirichaigoon Duangrurdee

BMC pediatrics（2021）

引用6浏览0WOS引用

Hypomorphic Mutations of TRIP11 Cause Odontochondrodysplasia

Anika Wehrle,Tomasz M. Witkos,Sheila Unger, Judith Schneider,John A. Follit, Johannes Hermann,Tim Welting,Virginia Fano,Marja Hietala,Nithiwat Vatanavicharn,Katharina Schoner,Juergen Spranger,Miriam Schmidts,Bernhard Zabel,Gregory J. Pazour,Agnes Bloch-Zupan,Gen Nishimura,Andrea Superti-Furga,Martin Lowe,Ekkehart Lausch

JCI insight（2019）

引用32浏览0WOS引用

Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly

Geraldine Mollet,Marie-Claire Daugeron,Weizhen Tan, Olivier, Gribouval,Olivia Boyer,Patrick Revy,Tilman Jobst-Schwan,Johanna Magdalena Schmidt,Jennifer A Lawson,Denny Schanze,Shazia Ashraf,Charlotte A Hoogstraten,Nathalie Boddaert, Bruno, Collinet,Dominique Liger,Svjetlana Lovric,Monica Furlano, Oraly, Sanchez-Ferras,Anne-Claire Boschat,Sylvia Sanquer,Björn Menten,Sarah Vergult,Nina De, Rocker,Merlin Airik,Tobias Hermle,Shirlee Shril,Eugen Widmeier,Heon Yung Gee,Won-Il Choi, E Carolin, Sadowski,Werner L Pabst,Jillian K Warejko,Ankana Daga,Tamara Basta,Verena Matejas,Karin Scharmann,Sandra D Kienast,Babak Behnam, Brendan Beeson,Amber Begtrup,Jui-Hsing Chang,Chao-Huei Chen,Megan T Cho,Patrick M Gaffney,Patrick E Gipson,Chyong-Hsin Hsu,Cathy Kiraly-Borri,Wai-Ming Lai,Rebecca Okashah Littlejohn,Amira Masri,Mastaneh Moghtaderi,Kazuyuki Nakamura,Fatih Ozaltin,Marleen Praet,Agnieszka Prytula,Elizabeth R Roeder,Rhonda E Schnur,Takashi Shiihara,Manish D Sinha,Neveen A Soliman,Kenza Soulami,David A Sweetser,Udo Vester,Nithiwat Vatanavicharn,Jessica L Waxler, J Klaas, Wierenga,Sik-Nin Wong, Annapurna, Poduri,Shrikant Mane,Peter Kannu,Bert Callewaert,Friedhelm Hildebrandt

semanticscholar（2018）

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Ichthyosis Follicularis with Atrichia and Photophobia Syndrome: First Case Report in Thailand

Rattanavalai Nitiyarom,Wanee Wisuthsarewong,Nithiwat Vatanavicharn,Rattapon Thuangtong,Atiporn Thuangtong,Chanin Limwongse,Sunisa Sawasdichai,Jane Manonukul

Siriraj Medical Journal（2017）

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论文共 46 篇作者统计合作学者相似作者