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

A missense variant in ASCL5 leads to lobodontia.

ASCL5基因的错义变异会导致牙叶畸形。

Theerapanon Thanakorn, Intarak Narin, Rattanapornsompong Khanti, Thaweesapphithak Sermporn, Sriwattanapong Kanokwan, Prommanee Sasiprapa, Kulvitit Sirinya, Skrinjaric Tomislav, Samaranayake Lakshman, Pongpanich Monnat, Yeetong Patra, Chaivoravitsakul Nardtiwa, Mehl Nicole Sirisopit, Assawapitaksakul Adjima, Srichomthong Chalurmpon, Chetruengchai Wanna, Porntaveetus Thantrira, Shotelersuk Vorasuk

FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts

FAM20A缺陷导致牙龈成纤维细胞转录组失调和功能障碍

Sriwattanapong, Kanokwan; Thaweesapphithak, Sermporn; Khamwachirapitak, Chompak; Sae-Ear, Pannagorn; Prommanee, Sasiprapa; Sa-Ard-Iam, Noppadol; Phothichailert, Suphalak; Jung, Han Sung; Shotelersuk, Vorasuk; Porntaveetus, Thantrira

Correction: Somatic mutations in the TG and RELA genes specific for radioiodine-refractory thyroid cancer

更正:TG 和 RELA 基因的体细胞突变是放射性碘难治性甲状腺癌的特异性特征

Sukprakun, Chanan; Nuwongsri, Pattarin; Tongkobpetch, Siraprapa; Srichomthong, Chalurmpon; Vinayanuwattikun, Chanida; Keelawat, Somboon; Jantasuwan, Supavadee; Tangjaturonrasme, Napadon; Samorn, Pasurachate; Shotelersuk, Vorasuk; Tepmongkol, Supatporn

The ASEAN genome consortium: advancing equitable precision medicine through regional solidarity

东盟基因组联盟:通过区域团结推进公平精准医疗

Sasongko, Teguh Haryo; Gunadi; Hoh, Boon Peng; Minari, Jusaku; Seow, Shih Wee; Shotelersuk, Vorasuk

Gene Correction of Wiskott-Aldrich syndrome iPS Cells Rescues Proplatelet Defects and Improves Platelet Size

基因校正Wiskott-Aldrich综合征iPS细胞可挽救前血小板缺陷并改善血小板大小

Ingrungruanglert, Praewphan; Phodang, Sarinya; Amarinthnukrowh, Pramuk; Meehart, Phattarawan; Pratedrat, Pornpitra; Suratannon, Narissara; Shotelersuk, Vorasuk; Suphapeetiporn, Kanya; Israsena, Nipan

Somatic mutations in the TG and RELA genes specific for radioiodine-refractory thyroid cancer

TG 和 RELA 基因的体细胞突变是放射性碘难治性甲状腺癌的特异性特征

Sukprakun, Chanan; Nuwongsri, Pattarin; Tongkobpetch, Siraprapa; Srichomthong, Chalurmpon; Vinayanuwattikun, Chanida; Keelawat, Somboon; Jantasuwan, Supavadee; Tangjaturonrasme, Napadon; Samorn, Pasurachate; Shotelersuk, Vorasuk; Tepmongkol, Supatporn

A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions

一项关于未确诊罕见病的全球调查:观点、挑战和解决方案

Baldovino, Simone; Sciascia, Savino; Carta, Claudio; Salvatore, Marco; Cellai, Laura L; Ferrari, Gianluca; Lumaka, Aimé; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; la Paz, Eva Maria Cutiongco-de; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Béla; Ozbek, Ugur; Pagava, Karaman; Puri, Ratna Dua; Romero, Vaness I; Scaria, Vinod; Jamuar, Saumya S; Shotelersuk, Vorasuk; Roccatello, Dario; Gahl, William A; Wiafe, Samuel A; Bodamer, Olaf; Posada, Manuel; Taruscio, Domenica

Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods

针对传统诊断方法无法确诊的儿童期发病神经肌肉疾病,采用下一代测序技术进行诊断

Kulsirichawaroj, Pimchanok; Chanvanichtrakool, Mongkol; Wattanadilokchatkun, Pish; Pho-Iam, Theeraphong; Limwongse, Chanin; Likasitwattanakul, Surachai; Boonyapisit, Kanokwan; Sanmaneechai, Oranee; Nishino, Ichizo; Shotelersuk, Vorasuk; Han, Joohyun; Zuchner, Stephan

Rare Variants Cause Charcot-Marie-Tooth Disease in Malian Families

罕见变异导致马里家族患上夏科-马里-图斯病

Yalcouyé, Abdoulaye; Cissé, Lassana; Diarra, Salimata; Diallo, Seybou H; Bamba, Salia; Yeetong, Patra; Maiga, Boubacar; Dembélé, Kékouta; Coulibaly, Dramane; Diallo, Salimata; Taméga, Abdoulaye; Maiga, Alassane Baneye; Ba, Hamidou O; Shotelersuk, Vorasuk; Fischbeck, Kenneth H; Guinto, Cheick O; Landouré, Guida

A comparison of DNA methylation detection between HiFi sequencing and whole genome bisulfite sequencing in monozygotic twins with Down syndrome

对唐氏综合征单卵双胞胎进行HiFi测序和全基因组亚硫酸氢盐测序的DNA甲基化检测比较

Promsawan, Kanyanee; Srichomthong, Chalurmpon; Pongpanich, Monnat; Shotelersuk, Vorasuk