日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Whole exome sequencing in relapsed or refractory childhood cancer: case series

复发或难治性儿童癌症的全外显子组测序:病例系列

Thangpong, Rungroj; Nuwongsri, Pattarin; Ittiwut, Chupong; Ittiwut, Rungnapa; Phokaew, Chureerat; Techavichit, Piti; Suphapeetiporn, Kanya

A Novel NR5A1 Mutation in a Thai Boy with 46, XY DSD

一名患有46,XY性发育异常的泰国男孩携带一种新的NR5A1基因突变

Wacharasindhu, Suttipong; Ittiwut, Chupong; Ittiwut, Rungnapa; Aroonparkmongkol, Suphab; Suphapeetiporn, Kanya

Molecular profiles and long-term outcomes of Thai children with hepatic glycogen storage disease in Thailand

泰国儿童肝糖原贮积症的分子特征和长期预后

Vanduangden, Jaravee; Ittiwut, Rungnapa; Ittiwut, Chupong; Phewplung, Teerasak; Sanpavat, Anapat; Sintusek, Palittiya; Suphapeetiporn, Kanya

XLI Annual Meeting of the Indian Academy of Neurosciences and International Conference on BRAIN: CHEMISTRY TO COGNITION

印度神经科学学会第41届年会暨脑:化学与认知国际会议

Boonsimma, Ponghatai; Ittiwut, Chupong; Kamolvisit, Wuttichart; Ittiwut, Rungnapa; Chetruengchai, Wanna; Phokaew, Chureerat; Srichonthong, Chalurmpon; Poonmaksatit, Sathida; Desudchit, Tayard; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk

Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants

名患有 KCNQ2 相关新生儿癫痫的患者以及两种错义变异的功能研究

Suphalak Chokvithaya, Natarin Caengprasath, Aayalida Buasong, Supavadee Jantasuwan, Kanokwan Santawong, Netchanok Leela-Adisorn, Siraprapa Tongkobpetch, Chupong Ittiwut, Vitchayaporn Emarach Saengow, Wuttichart Kamolvisit, Ponghatai Boonsimma, Saknan Bongsebandhu-Phubhakdi, Vorasuk Shotelersuk

TIGIT Monoallelic Nonsense Variant in Patient with Severe COVID-19 Infection, Thailand

泰国一名重症新冠肺炎患者携带TIGIT单等位基因无义突变

Sodsai, Pimpayao; Ittiwut, Chupong; Ruenjaiman, Vichaya; Ittiwut, Rungnapa; Jantarabenjakul, Watsamon; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk; Hirankarn, Nattiya

Genetic basis of sudden death after COVID-19 vaccination in Thailand

泰国新冠疫苗接种后猝死的遗传基础

Ittiwut, Chupong; Mahasirimongkol, Surakameth; Srisont, Smith; Ittiwut, Rungnapa; Chockjamsai, Manoch; Durongkadech, Piya; Sawaengdee, Waritta; Khunphon, Athiwat; Larpadisorn, Kanidsorn; Wattanapokayakit, Sukanya; Wetchaphanphesat, Suppachok; Arunotong, Surachet; Srimahachota, Suphot; Pittayawonganon, Chakrarat; Thammawijaya, Panithee; Sutdan, Derek; Doungngern, Pawinee; Khongphatthanayothin, Apichai; Kerr, Stephen J; Shotelersuk, Vorasuk

Genetic diagnosis for adult patients at a genetic clinic

遗传诊所为成年患者提供基因诊断

Rojnueangnit, Kitiwan; Anthanont, Pimjai; Khetkham, Thanitchet; Puttamanee, Sukita; Ittiwut, Chupong

Whole exome sequencing for diagnosis of hereditary thrombocytopenia

全外显子组测序用于诊断遗传性血小板减少症

Mekchay, Ponthip; Ittiwut, Chupong; Ittiwut, Rungnapa; Akkawat, Benjaporn; Le Grand, Supang Maneesri; Leela-Adisorn, Netchanok; Muanpetch, Suwanna; Khovidhunkit, Weerapan; Sosothikul, Darintr; Shotelersuk, Vorasuk; Suphapeetiporn, Kanya; Rojnuckarin, Ponlapat

Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation

一名患有 CPTII 纯合突变的患者,在斋月期间因长时间禁食和间歇性高脂肪摄入而加重了需要透析的严重高氨血症性脑病。

Phowthongkum, P; Ittiwut, C; Shotelersuk, V