Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Kim-Huong Thi Nguyen"'
Autor:
Anh-Hoa Nguyen Pham, MD, PhD, Kim-Oanh Bui Thi, MD, Mai-Huong Nguyen Thi, MD, Diem-Ngoc Ngo, MD, Nakayuki Naritaka, MD, Hiroshi Nittono, MD, Hisamitsu Hayashi, MD, Trang Thi Dao, MD, Kim-Huong Thi Nguyen, MD, Hoai-Nghia Nguyen, PhD, Hoa Giang, PhD, Hung-Sang Tang, MD, Tat-Thanh Nguyen, MD, Dinh-Kiet Truong, PhD, Minh-Dien Tran, MD
Publikováno v:
Medicine, Vol 101, Iss 25, p e29476 (2022)
Abstract. Rationale:. Congenital bile acid synthesis defect (BASD) is a rare disease caused by mutations in the aldo-keto reductase 1D1 gene, which encodes the primary Δ4-3-oxosteroid 5β-reductase enzyme. Early disease diagnosis is critical for ear
Externí odkaz:
https://doaj.org/article/07ebe75c38304d43ba06851477b8609f
Autor:
Le Son Tran, Quynh-Tho Thi Nguyen, Chu Van Nguyen, Vu-Uyen Tran, Thai-Hoa Thi Nguyen, Ha Thu Le, Mai-Lan Thi Nguyen, Vu Thuong Le, Lam-Son Pham, Binh Thanh Vo, Anh-Thu Huynh Dang, Luan Thanh Nguyen, Thien-Chi Van Nguyen, Hong-Anh Thi Pham, Thanh-Truong Tran, Long Hung Nguyen, Thanh-Thanh Thi Nguyen, Kim-Huong Thi Nguyen, Yen-Vi Vu, Nguyen Huu Nguyen, Vinh-Quang Bui, Hai-Ha Bui, Thanh-Thuy Thi Do, Nien Vinh Lam, Kiet Truong Dinh, Minh-Duy Phan, Hoai-Nghia Nguyen, Hoa Giang
Publikováno v:
Frontiers in Oncology, Vol 10 (2020)
Population-specific profiling of mutations in cancer genes is of critical importance for the understanding of cancer biology in general as well as the establishment of optimal diagnostics and treatment guidelines for that particular population. Altho
Externí odkaz:
https://doaj.org/article/d3d7f4e6639040938c07f6110d6c1ba2
Autor:
Hai Xuan Tang, Y‐Thanh Lu, Thi Minh Thi Ha, Nhat‐Thang Tran, Doan Minh Dang, Son Xuan Ly, Thu Ha Thi Bui, Son Ta Vo, Minh Doan Thai, Vu Dinh Nguyen, Thong Van Nguyen, Linh Thuy Dinh, Lan‐Anh Thi Luong, Kim‐Phuong Doan, Kim Huong Thi Nguyen, Thanh‐Thuy Thi Do, Dinh‐Kiet Truong, Hoa Giang, Hoai‐Nghia Nguyen, Thu Huong Nhut Trinh, Hung Sang Tang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)
Abstract Background De novo variations are a primary cause of Rett syndrome and Tubulinopathy, accounting for over 90% of cases. Some studies have identified and documented parental inheritance by mosaicism in these two disorders, albeit with limited
Externí odkaz:
https://doaj.org/article/19102d2952084acf94b9f1f48e3f6b86
Autor:
Vu Uyen Tran, Thanh-Huong Nguyen Thi, Le-Phuc Hoang, Thanh-Thuy Thi Do, Kim-Huong Thi Nguyen, Hung-Sang Tang, Loc Phuoc Doan, Hong-Dang Luu Nguyen, Hieu T. M. Nguyen, Bao-Han Huu Nguyen, Hoa Giang, Minh-Duy Phan, Quynh-Tho Thi Nguyen, Thanh Phuong Nguyen, Ngoc-Minh Phan, Ngoc Hieu Tran, Phuong Cao Thi Ngoc, Van T. M. Nguyen, Nien Vinh Lam, Minh-Tam Thi Quach, Dinh Kiet Truong, Dinh-Vinh Tran, Thu-Huong Nhat Trinh, Nhat-Thang Tran, Hoai-Nghia Nguyen, Trung-Hieu Le Nguyen
Publikováno v:
Human mutationREFERENCES. 42(10)
PurposeAccurate profiling of population-specific recessive diseases is essential for the design of cost-effective carrier screening programs. However, minority populations and ethnic groups, including Vietnamese, are still under-represented in existi
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Autor:
Luan Thanh Nguyen, Hai-Ha Bui, Chu Van Nguyen, Ha Thu Le, Thai-Hoa Thi Nguyen, Lam-Son Pham, Thanh-Thanh Thi Nguyen, Thanh-Thuy Thi Do, Kim-Huong Thi Nguyen, Yen-Vi Vu, Vinh-Quang Bui, Anh-Thu Huynh Dang, Hoa Giang, Le Son Tran, Vu Thuong Le, Thanh-Truong Tran, Quynh-Tho Thi Nguyen, Nguyen Huu Nguyen, Binh Thanh Vo, Long Hung Nguyen, Minh-Duy Phan, Hoai-Nghia Nguyen, Kiet Truong Dinh, Hong-Anh Thi Pham, Vu-Uyen Tran, Thien-Chi Van Nguyen, Nien Vinh Lam, Mai-Lan Thi Nguyen
Publikováno v:
Frontiers in Oncology, Vol 10 (2020)
Frontiers in Oncology
Frontiers in Oncology
Population-specific profiling of mutations in cancer genes is of critical importance for the understanding of cancer biology in general as well as the establishment of optimal diagnostics and treatment guidelines for that particular population. Altho