ภาควิชากุมารเวชศาสตร์ | คณะแพทยศาสตร์ศิริราชพยาบาล มหาวิทยาลัยมหิดล

1.

Kantaputra P.; Daroontum T.; Kitiyamas K.; Piyakhunakorn P.; Kawasaki K.; Sathienkijkanchai A.; Wasant P.; Vatanavicharn N.; Yasanga T.; Kaewgahya M.; Tongsima S.; Cox T.C.; Arold S.T.; Ohazama A.; Ngamphiw C.

Homozygosity for a Rare Plec Variant Suggests a Contributory Role in Congenital Insensitivity to Pain
International Journal of Molecular Sciences. 2024. 25 (12):

2.

Ittiwut C.; Ittiwut R.; Kuptanon C.; Matsuhashi T.; Shimura M.; Sugiyama Y.; Onuki T.; Ohtake A.; Murayama K.; Vatanavicharn N.; Dejputtawat W.; Tantisirivit N.; Kor-anantakul P.; Kamolvisit W.; Suphapeetiporn K.; Shotelersuk V.

Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder
Scientific Reports. 2023. 13 (1):

3.

Liammongkolkul S, Boonyawat B, Vijarnsorn C, Tim-Aroon T, Wasant P, Vatanavicharn N.

Phenotypic and molecular features of Thai patients with primary carnitine deficiency
Pediatr Int. 2022.

4.

Chaisrisawadisuk S, Vatanavicharn N, Khampalikit I, Moore MH.

Multisuture craniosynostosis: a case report of unusual presentation of chromosome 14q32 deletion
Child's Nervous System. 2022.

5.

Tim-Aroon T., Wichajarn K., Katanyuwong K., Tanpaiboon P., Vatanavicharn N., Sakpichaisakul K., Kongkrapan A., Eu-ahsunthornwattana J., Thongpradit S., Moolsuwan K., Satproedprai N., Mahasirimongkol S., Lerksuthirat T., Suktitipat B., Jinawath N., Wattanasirichaigoon D.

Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients
BMC Pediatrics. 2021. 21 (1):

6.

Ngiwsara L., Vatanavicharn N., Sawangareetrakul P., Liammongkolkul S., Ratanarak P., Boonyawat B., Srisomsap C., Champattanachai V., Ketudat-Cairns J., Wasant P., Svasti J.

Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants
Molecular Biology Reports. 2021.

7.

Wehrle A., Witkos T.M., Unger S., Schneider J., Follit J.A., Hermann J., Welting T., Fano V., Hietala M., Vatanavicharn N., Schoner K., Spranger J., Schmidts M., Zabel B., Pazour G.J., Bloch-Zupan A., Nishimura G., Superti-Furga A., Lowe M., Lausch E.

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia
JCI Insight. 2019. 4 (3):

8.

Wichajarn K., Liammongkolkul S., Vatanavicharn N., Wattanasirichaigoon D.

Clinical and laboratory findings and outcomes of classic organic acidurias in children from north-eastern Thailand: A 5-year retrospective study
Asian Biomedicine. 2017. 11 (1): 41-47.

9.

Braun D.A., Rao J., Mollet G., Schapiro D., Daugeron M.-C., Tan W., Gribouval O., Boyer O., Revy P., Jobst-Schwan T., Schmidt J.M., Lawson J.A., Schanze D., Ashraf S., Ullmann J.F.P., Hoogstraten C.A., Boddaert N., Collinet B., Martin G., Liger D., Lovric S., Furlano M., Guerrera I.C., Sanchez-Ferras O., Hu J.F., Boschat A.-C., Sanquer S., Menten B., Vergult S., De Rocker N., Airik M., Hermle T., Shril S., Widmeier E., Yung Gee H., Choi W.-I., Sadowski C.E., Pabst W.L., Warejko J.K., Daga A., Basta T., Matejas V., Scharmann K., Kienast S.D., Behnam B., Beeson B., Begtrup A., Bruce M., Ch'Ng G.-S., Lin S.-P., Chang J.-H., Chen C.-H., Cho M.T., Gaffney P.M., Gipson P.E., Hsu C.-H., Kari J.A., Ke Y.-Y., Kiraly-Borri C., Lai W.-M., Lemyre E., Littlejohn R.O., Masri A., Moghtaderi M., Nakamura K., Ozaltin F., Praet M., Prasad C., Topaloglu R., Vester U., Viskochil D.H., Vatanavicharn N., Kannu P., Chitayat D.

Mutations in KEOPS-complex genes cause nephritic syndrome with primary microcephaly
Nature Genetics. 2017. 49 (10): 1529-1538.

10.

Charuvanij S., Pattaragarn A., Wisuthsarewong W., Vatanavicharn N.

Juvenile gout in methylmalonic acidemia
Pediatrics International. 2016. 58 (6): 501-503.

ผลงานที่ได้รับการตีพิมพ์

รศ.นพ. นิธิวัชร์ วัฒนวิจารณ์