E-LIB Suche - Ergebnisse für: Ngo Diem Ngoc

1

Identification of a wide spectrum of ciliary gene mutations..:

Lam, Wai-Yee ; Tang, Clara Sze-Man ; So, Man-Ting...
eBioMedicine. 71 (2021) - p. 103530 , 2021

2

Distal duplication of chromosome 16q22.1q23.1 in a Vietname..:

Nguyen, Huy Hoang ; Pham, Van Anh ; Barcia, Giulia...
American Journal of Medical Genetics Part A. 176 (2018) 9 - p. 1981-1984 , 2018

Link: https://doi.org/10.1002/..

3

11β-Hydroxylase deficiency detected by urine steroid metabo..:

Tran, Mai Thi Chi ; Tran, Ngoc Anh Thi ; Nguyen, Phuong Mai...
Clinical Mass Spectrometry. 7 (2018) - p. 1-5 , 2018

Link: https://doi.org/10.1016/..

4

A novel homozygous mutation IVS6+5G>T in CYP11B1 gene in a ..:

Nguyen, Thi Phuong Mai ; Nguyen, Thu Hien ; Ngo, Diem Ngoc...
Gene. 565 (2015) 2 - p. 291-294 , 2015

Link: https://doi.org/10.1016/..

5

RET Mutational Spectrum in Hirschsprung Disease: Evaluation..:

So, Man-Ting ; Leon, Thomas Yuk-Yu ; Cheng, Guo...
PLoS ONE. 6 (2011) 12 - p. e28986 , 2011

Link: https://doi.org/10.1371/..

6

Apply MIKE 11 model to study impacts of climate change on w..:

Ho, Bang Quoc ; Nguyen, Khoi Dao ; Vu, Khue Hoang Ngoc...
Environmental Monitoring and Assessment. 194 (2022) S2 - p. , 2022

Link: https://doi.org/10.1007/..

7

A random forest-based framework for genotyping and accuracy..:

Zhuang, Xuehan ; Ye, Rui ; So, Man-Ting...
NAR Genomics and Bioinformatics. 2 (2020) 3 - p. , 2020

Link: https://doi.org/10.1093/..

8

Uncovering the genetic lesions underlying the most severe f..:

Tang, Clara SM ; Zhuang, Xuehan ; Lam, Wai-Yee...
European Journal of Human Genetics. 26 (2018) 6 - p. 818-826 , 2018

Link: https://doi.org/10.1038/..

9

De novo mutations in Caudal Type Homeo Box transcription Fa..:

Hsu, Jacob S J ; So, Manting ; Tang, Clara S M...
Human Molecular Genetics. 27 (2017) 2 - p. 351-358 , 2017

Link: https://doi.org/10.1093/..

10

Genetic study of congenital bile-duct dilatation identifies..:

Wong, John K. L. ; Campbell, Desmond ; Ngo, Ngoc Diem...
BMC Medical Genomics. 9 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..

11

The mutation spectrum of SLC25A13 gene in citrin deficiency..:

Nguyen, Mai-Huong Thi ; Nguyen, Anh-Hoa Pham ; Ngo, Diem-Ngoc...
Journal of Human Genetics. 68 (2023) 5 - p. 305-312 , 2023

Link: https://doi.org/10.1038/..

12

Cockayne syndrome without UV-sensitivity in Vietnamese sibl..:

Duong, Nguyen Thuy ; Dinh, Tran Huu ; Möhl, Britta S....
Aging. 14 (2022) 13 - p. 5299-5310 , 2022

Link: https://doi.org/10.18632..

13

Clinical and genetic features of congenital bile acid synth..:

Pham, Anh-Hoa Nguyen ; Thi, Kim-Oanh Bui ; Thi, Mai-Huong Nguyen...
Medicine. 101 (2022) 25 - p. e29476 , 2022

Link: https://doi.org/10.1097/..

14

Mutation spectrum of ATP7B gene in pediatric patients with ..:

Huong, Nguyen Thi Mai ; Hoa, Nguyen Pham Anh ; Ngoc, Ngo Diem...
Molecular Genetics and Metabolism Reports. 31 (2022) - p. 100861 , 2022

Link: https://doi.org/10.1016/..

15

Three novel mutations in the ATP7B gene of unrelated Vietna..:

Huong, Nguyen Thi Mai ; Lien, Nguyen Thi Kim ; Ngoc, Ngo Diem...
BMC Medical Genetics. 19 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..