Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family

por Nguyen, Ngoc-Lan, Ngoc, Can Thi Bich, Vu, Chi Dung, Nguyen, Thi Thu Huong, Nguyen, Huy Hoang
Publicado 2020

De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome

por Thanh, Duong Chi, Ngoc, Can Thi Bich, Nguyen, Ngoc-Lan, Vu, Chi Dung, Tung, Nguyen Van, Nguyen, Huy Hoang
Publicado 2020

The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report

por Tran, Van Khanh, Vu, Chi Dung, Tran, Hai Anh, Lien, Nguyen Thi Kim, Tung, Nguyen Van, Lan, Nguyen Ngoc, Tran, Huy Thinh, Hoang, Nguyen Huy
Publicado 2023

Targeted next‐generation sequencing determined a novel SGCG variant that is associated with limb‐girdle muscular dystrophy type 2C: A case report

por Tran, Nam‐Chung, Nguyen, Tuan Anh, Ta, Thanh Dat, Tran, Thinh Huy, Nguyen, Phuoc‐Dung, Vu, Chi Dung, Nguyen, Van‐Hung, Bui, The‐Hung, Ta, Thanh Van, Tran, Van Khanh
Publicado 2023

A multicenter study of endocrine abnormalities in septo-optic dysplasia (SOD) in Asean countries

por Wacharasindhu, Suttipong, Yottasan, Pattareeya, Jaruratanasirikul, Somchit, Panamonta, Ouyporn, Unachak, Kevalee, Pulungan, Aman, Faizi, Muhammad, Rochmah, Nur, Campos, Susana, Cua, SiokSoan Chan, Harun, Fatimah Binti, Jalaludin, Muhammad Yazid, tiet, Vu Chi Dung Noi
Publicado 2015

The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

por Germain, Dominique P., Moiseev, Sergey, Suárez‐Obando, Fernando, Al Ismaili, Faisal, Al Khawaja, Huda, Altarescu, Gheona, Barreto, Fellype C., Haddoum, Farid, Hadipour, Fatemeh, Maksimova, Irina, Kramis, Mirelle, Nampoothiri, Sheela, Nguyen, Khanh Ngoc, Niu, Dau‐Ming, Politei, Juan, Ro, Long‐Sun, Vu Chi, Dung, Chen, Nan, Kutsev, Sergey
Publicado 2021