Nguyen Thi Phuong Mai - Institute of Genome Research, Vietnam Academy of Science and Technology;Human Genetics Department, National Hospital of Pediatrics

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论文共 41 篇作者统计合作学者相似作者

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A novel IGHMBP2 variant and clinical diversity in Vietnamese SMARD1 and CMT2S patients

Van Khanh Tran, My Ha Cao,Thi Thanh Hai Nguyen,Phuong Thi Le,Hai Anh Tran,Dung Chi Vu, Ha Thu Nguyen,Mai Thi Phuong Nguyen,The-Hung Bui, Thanh Binh Nguyen,Thanh Van Ta,Thinh Huy Tran

FRONTIERS IN PEDIATRICS (2024): 1165492-1165492

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Kiểu hình và kiểu gen của trẻ mắc tăng sản thượng thận bẩm sinh thiếu 21-hydroxylase phát hiện qua sàng lọc sơ sinh

Thị Hồng Vân Dương, Thị Bích Ngọc Cấn, Thị Kim Giang Đặng,Phương Mai Nguyễn, Minh Điển Trần,Chí Dũng Vũ

Tạp chí Y học Việt Namno. 1A (2023)

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Robust preimplantation genetic testing of the common F8 Inv22 pathogenic variant of severe hemophilia A using a highly polymorphic multi-marker panel encompassing the paracentric inversion

Minh Tam Nguyen,Thanh Tung Nguyen,Duy Bac Nguyen,Thi Mai Nguyen,Kim Ngan Nguyen, Van Nhat Minh Ngo, Van Dieu Nguyen,Ngoc Anh Tran,Mulias Lian,Arnold S. C. Tan,Samuel S. Chong,Tien Truong Dang

Thrombosis journalno. 1 (2023): 1-7

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Xây dựng hệ giá trị của đội ngũ trí thức trong giai đoạn hiện nay

Như Hiến Đỗ,Thị Mái Nguyễn, Văn Thuyên Nguyễn

Tập san Khoa học và kỹ thuật trường Đại học Bình Dươngno. 1 (2023)

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Biliary atresia combined Wilson disease identified by whole exome sequencing in Vietnamese patient with severe liver failure

Nguyen Pham Anh Hoa,Nguyen Thi Kim Lien,Nguyen Van Tung,Nguyen Ngoc Lan,Nguyen Thi Phuong Mai,Nguyen Thi Mai Huong,Hoang Ngoc Thach,Nguyen Huy Hoang

MEDICINE（2022）

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Preimplantation genetic testing (PGT) for hemophilia A: Experience from one center

Thi Minh Phuong Bui,Van Khanh Tran,Thi Thanh Hai Nguyen,Thi Phuong Le, Thi Mai Nguyen,Hai Anh Tran, Vu Dung Luu,Manh Ha Nguyen,The-Hung Bui,Thanh Van Ta,Thinh Huy Tran

Taiwanese journal of obstetrics & gynecology（2022）

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Application of Whole Exome Sequencing in Mutational Analysis of Patients with Ohtahara Syndrome

Nguyen Thi Quynh Mai, Nguyen Le Trung Hieu,Le Thi Khanh Van, Nguyen Thuy Minh Thu, Le Tran Anh Ngan, Huynh Thi Dieu Hien, Do Thi Thu Hang

VNU Journal of Science: Medical and Pharmaceutical Sciencesno. 2 (2022)

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Case report: PICC line for a toddler with bilateral bidirectional Glenn shunt, Fontan circulation and persistent left superior vena cava

Huong Tran,Dien Tran, Truong Nguyen,Nguyet Nguyen,Mai Nguyen, Huyen Ngo

crossref（2022）

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Identification of the causative mutation in the ITGB2 gene in a LAD1 patient by whole exome sequencing

Nguyen Thi Kim Lien,Nguyen Thi Van Anh,Nguyen Van Tung, Duong Anh Linh,Nguyen Thi Phuong Mai,Nguyen Huy Hoang

Tạp chí công nghê sinh họcno. 2 (2022): 213-218

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De novo mutations of \(\textit{ ELANE}\) gene in three Vietnamese patients with severe congenital neutropenia

Duong Anh Linh,Nguyen Thi Van Anh,Nguyen Van Tung,Nguyen Huy Hoang, Ngo Diem Ngoc,Nguyen Thi Phuong Mai, Ngo Manh Tien,Nguyen Thi Kim Lien

Academia Journal of Biologyno. 3 (2022): 77-85

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