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

Comparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies

GNE肌病与其他青年起病遗传性肌病全身肌肉影像学表现的比较

Boonsri, Pattira; Yamutai, Suppakorn; Tanutit, Pramot; Sattayapornpipat, Jirakit; Charalsawadi, Chariyawan; Koonalintip, Prut; Sathirapanya, Pornchai; Setthawatcharawanich, Suwanna; Leelawattana, Rattana; Korathanakhun, Pat

A 30-Year Experience in Fragile X Syndrome Molecular Diagnosis from a Laboratory in Thailand

泰国某实验室30年来在脆性X综合征分子诊断方面的经验

Hnoonual, Areerat; Plong-On, Oradawan; Tangviriyapaiboon, Duangkamol; Charalsawadi, Chariyawan; Limprasert, Pornprot

Aetiology and Clinical Characteristics of Primary Amenorrhoea with Hypothalamic or Pituitary Disorders at a Quaternary Hospital

四级医院下丘脑或垂体疾病原发性闭经的病因及临床特征

Peeyananjarassri, Krantarat; Klangsin, Satit; Wattanakumtornkul, Saranya; Dhanaworavibul, Kriengsak; Choksuchat, Chainarong; Getpook, Chatpavit; Charalsawadi, Chariyawan; Maisrikhaww, Worathai

Molecular identification of HLA-B75 serotype markers by qPCR: A more inclusive pharmacogenetic approach before carbamazepine prescription

利用qPCR进行HLA-B75血清型标记的分子鉴定:卡马西平处方前更全面的药物遗传学方法

Jaruthamsophon, Kanoot; Sangmanee, Pornsiri; Plong-On, Oradawan; Charalsawadi, Chariyawan; Sukasem, Chonlaphat; Hnoonual, Areerat

Case report: Molecular analysis of a 47,XY,+21/46,XX chimera using SNP microarray and review of literature

病例报告:应用SNP微阵列对47,XY,+21/46,XX嵌合体进行分子分析及文献综述

Charalsawadi, Chariyawan; Jaruratanasirikul, Somchit; Hnoonual, Areerat; Chantarapong, Aussanai; Sangmanee, Pornsiri; Trongnit, Sasipong; Jinawath, Natini; Limprasert, Pornprot

Possible association between a polymorphism of EPAS1 gene and persistent pulmonary hypertension of the newborn: a case-control study

EPAS1基因多态性与新生儿持续性肺动脉高压的可能关联:一项病例对照研究

Nakwan, Narongsak; Mahasirimongkol, Surakameth; Satproedprai, Nusara; Chaiyasung, Tassamonwan; Kunhapan, Punna; Charoenlap, Cheep; Singkhamanan, Kamonnut; Charalsawadi, Chariyawan

Case Report: An Atypical Angelman Syndrome Case With Obesity and Fulfilled Autism Spectrum Disorder Identified by Microarray

病例报告:微阵列分析鉴定出一例伴有肥胖和确诊自闭症谱系障碍的非典型安格曼综合征病例

Hnoonual, Areerat; Kor-Anantakul, Phawin; Charalsawadi, Chariyawan; Worachotekamjorn, Juthamas; Limprasert, Pornprot

No Evidence of Abnormal Expression of Beta-Catenin and Bcl-2 Proteins in Pilomatricoma as One Clinical Feature of Tetrasomy 9p Syndrome

毛母细胞瘤中未发现β-catenin和Bcl-2蛋白异常表达,而毛母细胞瘤是9p四体综合征的临床特征之一。

Charalsawadi, Chariyawan; Trongnit, Sasipong; Jaruthamsophon, Kanoot; Wirojanan, Juthamas; Jaruratanasirikul, Somchit; Nitiruangjaras, Anupong; Limprasert, Pornprot

Common Clinical Characteristics and Rare Medical Problems of Fragile X Syndrome in Thai Patients and Review of the Literature

泰国脆性X综合征患者的常见临床特征和罕见医学问题及文献综述

Charalsawadi, Chariyawan; Wirojanan, Juthamas; Jaruratanasirikul, Somchit; Ruangdaraganon, Nichara; Geater, Alan; Limprasert, Pornprot

Screening for Subtelomeric Rearrangements in Thai Patients with Intellectual Disabilities Using FISH and Review of Literature on Subtelomeric FISH in 15,591 Cases with Intellectual Disabilities

利用荧光原位杂交技术筛查泰国智力障碍患者的亚端粒重排,并对15591例智力障碍患者的亚端粒荧光原位杂交文献进行回顾

Charalsawadi, Chariyawan; Khayman, Jariya; Praphanphoj, Verayuth; Limprasert, Pornprot