E-LIB Suche - Ergebnisse für: Charng, Wu‐Lin

1

Exome sequencing of 1190 non-syndromic clubfoot cases revea..:

Charng, Wu-Lin ; Nikolov, Momchil ; Shrestha, Isabel...
Journal of Medical Genetics. 61 (2024) 7 - p. 699-706 , 2024

2

Diagnostic yield of exome sequencing in congenital vertical..:

Tayebi, Naeimeh ; Charng, Wu-Lin ; Dickson, Patricia I...
European Journal of Medical Genetics. 65 (2022) 6 - p. 104514 , 2022

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

3

Diverse monogenic subforms of human spermatogenic failure:

Nagirnaja, Liina ; Lopes, Alexandra M. ; Charng, Wu-Lin...
Nature Communications. 13 (2022) 1 - p. , 2022

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

4

Whole Exome Sequencing in Individuals with Idiopathic Clubf..:

Quiggle, Ashley ; Charng, Wu-Lin ; Antunes, Lilian...
Clinical Orthopaedics & Related Research. 480 (2021) 2 - p. 421-430 , 2021

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

5

Mutation of CFAP57, a protein required for the asymmetric t..:

Bustamante-Marin, Ximena M. ; Horani, Amjad ; Stoyanova, Mihaela...
PLOS Genetics. 16 (2020) 8 - p. e1008691 , 2020

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

6

Wolff–Parkinson–White syndrome: De novo variants and eviden..:

Coban‐Akdemir, Zeynep H. ; Charng, Wu‐Lin ; Azamian, Mahshid...
American Journal of Medical Genetics Part A. 182 (2020) 6 - p. 1387-1399 , 2020

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

7

Identification of genetic variants in CFAP221 as a cause of..:

Bustamante-Marin, Ximena M. ; Shapiro, Adam ; Sears, Patrick R....
Journal of Human Genetics. 65 (2019) 2 - p. 175-180 , 2019

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

8

Germline mutations in ABL1 cause an autosomal dominant synd..:

Wang, Xia ; Charng, Wu-Lin ; Chen, Chun-An...
Nature Genetics. 49 (2017) 4 - p. 613-617 , 2017

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

9

Exome sequencing in mostly consanguineous Arab families wit..:

Charng, Wu-Lin ; Karaca, Ender ; Coban Akdemir, Zeynep...
BMC Medical Genomics. 9 (2016) 1 - p. , 2016

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

10

MIPEP recessive variants cause a syndrome of left ventricul..:

Eldomery, Mohammad K. ; Akdemir, Zeynep C. ; Vögtle, F.-Nora...
Genome Medicine. 8 (2016) 1 - p. , 2016

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

11

Homozygous and hemizygous CNV detection from exome sequenci..:

Gambin, Tomasz ; Akdemir, Zeynep C. ; Yuan, Bo...
Nucleic Acids Research. , 2016

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

12

Identification of a RAI1-associated disease network through..:

Loviglio, Maria Nicla ; Beck, Christine R. ; White, Janson J....
Genome Medicine. 8 (2016) 1 - p. , 2016

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

13

Correction: The Retromer Complex Is Required for Rhodopsin ..:

Wang, Shiuan ; Tan, Kai Li ; Agosto, Melina A....
PLOS Biology. 13 (2015) 5 - p. e1002170 , 2015

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

14

Whole-Exome Sequencing Identifies Homozygous GPR161 Mutatio..:

Karaca, Ender ; Buyukkaya, Ramazan ; Pehlivan, Davut...
The Journal of Clinical Endocrinology & Metabolism. 100 (2015) 1 - p. E140-E147 , 2015

Link: https://doi.org/10.1210/..

15

Drosophila Tempura, a Novel Protein Prenyltransferase α Sub..:

Charng, Wu-Lin ; Yamamoto, Shinya ; Jaiswal, Manish...
PLoS Biology. 12 (2014) 1 - p. e1001777 , 2014

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