E-LIB Suche - Ergebnisse für: Lee, Kwanghyuk

1

A complex case of posterior reversible encephalopathy syndr..:

Heo, Min Hee ; Choi, Hwan Yong ; Lee, Kwanghyuk.
Saudi Journal of Anaesthesia. 18 (2024) 1 - p. 134-136 , 2024

Link: https://doi.org/10.4103/..

2

An FBN1 deep intronic variant is associated with pseudoexon..:

Guo, Dong‐chuan ; Duan, Xueyan ; Mimnagh, Kathleen...
Clinical Genetics. 103 (2023) 6 - p. 704-708 , 2023

Link: https://doi.org/10.1111/..

3

Evolutionary Action–Machine Learning Model Identifies Candi..:

Shapiro, Dillon ; Lee, Kwanghyuk ; Asmussen, Jennifer..
Journal of the American Heart Association. 12 (2023) 17 - p. , 2023

Link: https://doi.org/10.1161/..

4

Functional variants identify sex-specific genes and pathway..:

Bourquard, Thomas ; Lee, Kwanghyuk ; Al-Ramahi, Ismael...
Nature Communications. 14 (2023) 1 - p. , 2023

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

5

Rare variants in ANO1, encoding a calcium-activated chlorid..:

Pinard, Amélie ; Ye, Wenlei ; Fraser, Stuart M...
Brain. 146 (2023) 9 - p. 3616-3623 , 2023

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

6

Identification of risk genes for Alzheimer's disease by gen..:

Lagisetty, Yashwanth ; Bourquard, Thomas ; Al-Ramahi, Ismael...
Cell Genomics. 2 (2022) 9 - p. 100162 , 2022

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

7

EPIMUTESTR: a nearest neighbor machine learning approach to..:

Parvandeh, Saeid ; Donehower, Lawrence A ; Katsonis, Panagiotis...
Nucleic Acids Research. 50 (2022) 12 - p. e70-e70 , 2022

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

8

Neural correlates of implicit agency during the transition ..:

Aytemur, Ali ; Lee, Kwang-Hyuk ; Levita, Liat
Neuropsychologia. 158 (2021) - p. 107908 , 2021

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

9

MYLK pathogenic variants aortic disease presentation, pregn..:

Wallace, Stephanie E. ; Regalado, Ellen S. ; Gong, Limin...
Genetics in Medicine. 21 (2019) 1 - p. 144-151 , 2019

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

10

Variants in KIAA0825 underlie autosomal recessive postaxial..:

Ullah, Irfan ; Kakar, Naseebullah ; Schrauwen, Isabelle...
Human Genetics. 138 (2019) 6 - p. 593-600 , 2019

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

11

Novel candidate genes and variants underlying autosomal rec..:

Santos-Cortez, Regie Lyn P. ; Khan, Valeed ; Khan, Falak Sher...
Human Genetics. 137 (2018) 9 - p. 735-752 , 2018

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

12

Cerebellar Structural Abnormalities Associated With Cogniti..:

Kim, Taekwan ; Lee, Kwang-Hyuk ; Oh, Hyerim...
Frontiers in Psychiatry. 9 (2018) - p. , 2018

Link: https://doi.org/10.3389/..

13

Global genetic insight contributed by consanguineous Pakist..:

Richard, Elodie M. ; Santos-Cortez, Regie Lyn P. ; Faridi, Rabia...
Human Mutation. 40 (2018) 1 - p. 53-72 , 2018

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

14

Novel missense and 3′-UTR splice site variants in LHFPL5 ca..:

Liaqat, Khurram ; Chiu, Ilene ; Lee, Kwanghyuk...
Journal of Human Genetics. 63 (2018) 11 - p. 1099-1107 , 2018

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

15

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Huma..:

Schrauwen, Isabelle ; Giese, Arnaud PJ ; Aziz, Abdul...
Journal of Bone and Mineral Research. 34 (2018) 2 - p. 375-386 , 2018

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