Parental mosaicism rather than de novo variants in FOXG1‐related syndrome and TUBA1A‐associated Tubulinopathy: Familial case reports
Tang, Hai Xuan, Lu, Y‐Thanh, Ha, Thi Minh Thi, Tran, Nhat‐Thang, Dang, Doan Minh, Ly, Son Xuan, Bui, Thu Ha Thi, Vo, Son Ta, Thai, Minh Doan, Nguyen, Vu Dinh, Nguyen, Thong Van, Dinh, Linh Thuy, Luong, Lan‐Anh Thi, Doan, Kim‐Phuong, Nguyen, Kim Huong Thi, Do, Thanh‐Thuy Thi, Truong, Dinh‐Kiet, Giang, Hoa, Nguyen, Hoai‐Nghia, Trinh, Thu Huong Nhut, Tang, Hung Sang
Published in Molecular genetics & genomic medicine (01.06.2024)
Published in Molecular genetics & genomic medicine (01.06.2024)
Get full text
Journal Article
Prenatal diagnosis of autosomal recessive renal tubular dysgenesis caused by variants in the ACE gene: Two fetuses with anhydramnios
Nguyen Thi, Sim, Nguyen Duy, Anh, Luong Thi Lan, Anh, Pho Hong, Diep, Thu, Huong Nguyen, Huu, Bay Luong, Nguyen Duc, Anh, Thi, Huong Ngo, Thi, Canh Thu Than
Published in Prenatal diagnosis (01.02.2024)
Published in Prenatal diagnosis (01.02.2024)
Get full text
Journal Article
High prevalence of maternal mosaic monosomy X in pregnant women in Vietnam
Tran, Danh Cuong, Nguyen, Thanh-Thanh Thi, Thi Hoang, Ngoc-Lan, Thi Luong, Lan-Anh, Doan, Kim-Phuong Thi, Ha, Minh Thi Thi, Tran, Nhat-Thang, Nguyen, Van-Thong, Trinh, Thu-Huong Nhat, Kieu Nguyen, Ngoc-Trinh, Nguyen, Cong-Trai, Nguyen, Thanh-Dat, Thi Nguyen, xQuynh-Tho, Do, Thanh-Thuy Thi, Truong, Dinh-Kiet, Giang, Hoa, Nguyen, Hoai-Nghia, Tang, Hung-Sang, Phan, Minh-Duy
Published in The journal of maternal-fetal & neonatal medicine (31.12.2023)
Published in The journal of maternal-fetal & neonatal medicine (31.12.2023)
Get full text
Journal Article
A rare homozygous missense mutation of COL7A1 in a Vietnamese family
Duong, Nguyen Thuy, Anh, Luong Thi Lan, Sau, Nguyen Huu, Anh, Nguyen Bao, Miyake, Noriko, Van Hai, Nong, Matsumoto, Naomichi
Published in Human genome variation (17.05.2022)
Published in Human genome variation (17.05.2022)
Get full text
Journal Article
Identification of novel missense mutations associated with non-syndromic syndactyly in two vietnamese trios by whole exome sequencing
Ngoc, Nguyen Thy, Duong, Nguyen Thuy, Quynh, Do Hai, Ton, Nguyen Dang, Duc, Hoang Hai, Huong, Le Thi Minh, Anh, Luong Thi Lan, Hai, Nong Van
Published in Clinica chimica acta (01.07.2020)
Published in Clinica chimica acta (01.07.2020)
Get full text
Journal Article
Genetic analyses of Vietnamese patients with oculocutaneous albinism
Thuong, Ma Thi Huyen, Anh, Luong Thi Lan, Nhung, Vu Phuong, Ngoc, Tran Thi Bich, Lan, Hoang Thu, Phuong, Doan Kim, Ha, Nguyen Hai, Hai, Nong, Ton, Nguyen Dang
Published in Journal of clinical laboratory analysis (01.09.2022)
Published in Journal of clinical laboratory analysis (01.09.2022)
Get full text
Journal Article
A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report
Ho, Thuong Thi, Tran, Linh Huyen, Hoang, Lan Thu, Doan, Phuong Kim Thi, Nguyen, Trang Thi, Nguyen, Trang Hong, Tran, Hoai Thu, Hoang, Ha, Chu, Ha Hoang, Luong, Anh Lan Thi
Published in BMC musculoskeletal disorders (07.04.2020)
Published in BMC musculoskeletal disorders (07.04.2020)
Get full text
Journal Article
A consultation and work-up diagnosis protocol for a multicancer early detection test: a case series study
Dang Nguyen, Luu Hong, Tieu, Ba Linh, Nguyen, Thi Thanh, Ha, Nhung Phuong, Huong Nguyen, Giang Thi, Hanh Nguyen, Thi Hue, Le, Van Hoi, Bui, Vinh Quang, Nguyen, Lan Hieu, Pham, Nhu Hiep, Phan, Thanh Hai, Nguyen, Huu Thinh, Tran, Van Song, Bui, Chi Viet, Vo, Van Kha, Nhan Nguyen, Pham Thanh, Phuoc Dang, Ha Huu, Pham, Van Dung, Cao, Van Thinh, Phan, Ngoc Minh, Nguyen, Van Tung, Quyen Le, Thi Le, Luong, Thi Lan-Anh, Phuong Doan, Thi Kim, Phan, Canh Duy, Nguyen, Thanh Xuan, Pham, Nguyen Tuong, Nguyen, Bao Toan, Thuy Pham, Thi Thu, Le, Huu Linh, Truong, Cong Thanh, Jasmine, Thanh Xuan, Le, Minh Chi, Phan, Van Bau, Truong, Quang Binh, Ly Tran, Thi Huong, Huynh, Minh Thien, Tran, Tu Quy, Nguyen, Si Tuan, Tran, Vu, Tran, Van Khanh, Nguyen, Huu Nguyen, Phan, Thi Van, Do, Thi Thanh-Thuy, Truong, Dinh Kiet, Giang, Hoa, Nguyen, Hoai-Nghia, Phan, Minh-Duy, Tran, Le Son, Tang, Hung Sang, Nguyen, Duy Sinh
Published in Future science OA (31.12.2024)
Published in Future science OA (31.12.2024)
Get full text
Journal Article
In silico validation revealed the role of SCN5A mutations and their genotype–phenotype correlations in Brugada syndrome
Pham, Hung Manh, Nguyen, Duy Phuong, Ta, Thanh Dat, Le, Thi Phuong, Phan, Phong Hai, Trinh, Hoai An, Tran, Tuan Viet, Luong, Thi Lan Anh, Nguyen, Ha Minh, Bui, The‐Hung, Tran, Thinh Huy, Ta, Thanh Van, Tran, Van‐Khanh
Published in Molecular genetics & genomic medicine (01.12.2023)
Published in Molecular genetics & genomic medicine (01.12.2023)
Get full text
Journal Article
Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencing
Ma, Thi Huyen Thuong, Luong, Thi Lan Anh, Hoang, Thu Lan, Nguyen, Thi Thanh Hoa, Vu, Thi Ha, Tran, Van Khoa, Nguyen, Duy Bac, Trieu, Tien Sang, Nguyen, Hai Ha, Nong, Van Hai, Nguyen, Dang Ton
Published in Molecular genetics & genomic medicine (01.08.2021)
Published in Molecular genetics & genomic medicine (01.08.2021)
Get full text
Journal Article
Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome
Luong, Anh Lan Thi, Ho, Thuong Thi, Hoang, Ha, Nguyen, Trung Quang, Ho, Tu Cam, Tran, Phan Duc, Hoang, Thuy Thi, Nguyen, Nam Trung, Chu, Hoang Ha
Published in Biomedical reports (01.02.2019)
Published in Biomedical reports (01.02.2019)
Get full text
Journal Article
Maternal vascular endothelial growth factor receptor and interleukin levels in pregnant women with twin-twin transfusion syndrome
Anh, Nguyen Duy, Thuong, Phan Huyen, Sim, Nguyen Thi, Thao, Tran Thi Phuong, Anh, Luong Thi Lan, Canh, Than Thi Thu, Dieu, Nguyen Van, Bac, Nguyen Duy, Tong, Hoang Van
Published in International journal of medical sciences (01.01.2021)
Published in International journal of medical sciences (01.01.2021)
Get full text
Journal Article
A Novel Frameshift Microdeletion of the TEX12 Gene Caused Infertility in Two Brothers with Nonobstructive Azoospermia
Bui, Minh Duc, Luong, Thi Lan Anh, Tran, Huu Dinh, Duong, Thi Thu Ha, Nguyen, Thy Ngoc, Nguyen, Dang Ton, Nguyen, Thuy Duong, Nong, Van Hai
Published in Reproductive sciences (Thousand Oaks, Calif.) (01.09.2023)
Published in Reproductive sciences (Thousand Oaks, Calif.) (01.09.2023)
Get full text
Journal Article
A novel single-point mutation of NEFH and biallelic SACS mutation presenting as intermediate form Charcot-Marie-Tooth: A case report in Vietnam
Truong, Anh Tuan, Luong, Anh Thi Lan, Nguyen, Linh Hai, Nguyen, Huong Van, Nguyen, Diep Ngoc, Nguyen, Ngoc Thi Minh
Published in Surgical neurology international (25.11.2022)
Published in Surgical neurology international (25.11.2022)
Get full text
Journal Article
Clinical validation of a ctDNA-Based Assay for Multi-Cancer Detection: An Interim Report from a Vietnamese Longitudinal Prospective Cohort Study of 2795 Participants
Nguyen, Thi Hue Hanh, Lu, Y-Thanh, Le, Van Hoi, Bui, Vinh Quang, Nguyen, Lan Hieu, Pham, Nhu Hiep, Phan, Thanh Hai, Nguyen, Huu Thinh, Tran, Van Song, Bui, Chi Viet, Vo, Van Kha, Nguyen, Pham Thanh Nhan, Dang, Ha Huu Phuoc, Pham, Van Dung, Cao, Van Thinh, Nguyen, Thanh Dat, Nguyen, Luu Hong Dang, Phan, Ngoc Minh, Nguyen, Trong Hieu, Nguyen, Van Thien Chi, Pham, Thi Mong Quynh, Tran, Vu Uyen, Le, Minh Phong, Vo, Dac Ho, Tran, Thi Minh Thu, Nguyen, Minh Nguyen, Nguyen, Thi Thanh, Tieu, Ba Linh, Nguyen, Huu Tam Phuc, Truong, Dinh Yen An, Cao, Chi Thuy Tien, Nguyen, Van Tung, Le, Thi Le Quyen, Luong, Thi Lan Anh, Doan, Thi Kim Phuong, Dao, Thi Trang, Phan, Canh Duy, Nguyen, Thanh Xuan, Pham, Nguyen Tuong, Nguyen, Bao Toan, Pham, Thi Thu Thuy, Le, Huu Linh, Truong, Cong Thanh, Jasmine, Thanh Xuan, Le, Minh Chi, Phan, Van Bau, Truong, Quang Binh, Tran, Thi Huong Ly, Huynh, Minh Thien, Tran, Tu Quy, Nguyen, Si Tuan, Tran, Vu, Tran, Van Khanh, Nguyen, Huu Nguyen, Nguyen, Duy Sinh, Nguyen, Thi Quynh Tho, Phan, Thi Van, Do, Thi Thanh-Thuy, Truong, Dinh-Kiet, Tang, Hung Sang, Phan, Minh Duy, Giang, Hoa, Nguyen, Hoai Nghia, Tran, Le Son
Published in Cancer investigation (16.03.2023)
Published in Cancer investigation (16.03.2023)
Get full text
Journal Article