E-LIB Suche - Ergebnisse für: Kanca, Oguz

1

De novo variants in FRYL are associated with developmental ..:

Pan, Xueyang ; Tao, Alice M. ; Lu, Shenzhao...
The American Journal of Human Genetics. 111 (2024) 4 - p. 742-760 , 2024

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

2

Cdk8/CDK19 promotes mitochondrial fission through Drp1 phos..:

Liao, Jenny Zhe ; Chung, Hyung-lok ; Shih, Claire...
Nature Communications. 15 (2024) 1 - p. , 2024

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

3

Homozygous missense variants in YKT6 result in loss of func..:

Ma, Mengqi ; Ganapathi, Mythily ; Zheng, Yiming...
Genetics in Medicine. 26 (2024) 7 - p. 101125 , 2024

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

4

Identifying potential dietary treatments for inherited meta..:

Martelli, Felipe ; Lin, Jiayi ; Mele, Sarah...
Cell Reports. 43 (2024) 3 - p. 113861 , 2024

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

5

P588: De novo and inherited variants in DDX39B cause a nove..:

Booth, Kevin ; Jangam, Sharayu ; Man Chun Chui, Martin...
Genetics in Medicine Open. 2 (2024) - p. 101494 , 2024

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

6

Loss of the endoplasmic reticulum protein Tmem208 affects c..:

Dutta, Debdeep ; Kanca, Oguz ; Shridharan, Rishi V....
Proceedings of the National Academy of Sciences. 121 (2024) 9 - p. , 2024

Link: https://doi.org/10.1073/..

7

P173: Precision animal modeling and VUS-resolution in a nov..:

Burrage, Lindsay ; Lanza, Denise ; Marcogliese, Paul...
Genetics in Medicine Open. 2 (2024) - p. 101070 , 2024

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

8

Bi-allelic variants in INTS11 are associated with a complex..:

Tepe, Burak ; Macke, Erica L. ; Niceta, Marcello...
The American Journal of Human Genetics. 110 (2023) 5 - p. 774-789 , 2023

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

9

A comprehensive Drosophila resource to identify key functio..:

Guichard, Annabel ; Lu, Shenzhao ; Kanca, Oguz...
Cell Reports. 42 (2023) 8 - p. 112842 , 2023

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

10

Rare de novo gain-of-function missense variants in DOT1L ar..:

Nil, Zelha ; Deshwar, Ashish R. ; Huang, Yan...
The American Journal of Human Genetics. 110 (2023) 11 - p. 1919-1937 , 2023

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

11

Allelic strengths of encephalopathy-associated UBA5 variant..:

Pan, Xueyang ; Alvarez, Albert N ; Ma, Mengqi...
eLife. 12 (2023) - p. , 2023

Link: https://doi.org/10.7554/..

12

Very-long-chain fatty acids induce glial-derived sphingosin..:

Chung, Hyung-lok ; Ye, Qi ; Park, Ye-Jin...
Cell Metabolism. 35 (2023) 5 - p. 855-874.e5 , 2023

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

13

A defect in mitochondrial fatty acid synthesis impairs iron..:

Dutta, Debdeep ; Kanca, Oguz ; Byeon, Seul Kee...
Nature Metabolism. 5 (2023) 9 - p. 1595-1614 , 2023

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

14

Allelic strengths of encephalopathy-associated UBA5 variant..:

Pan, Xueyang ; Alvarez, Albert N ; Ma, Mengqi...
eLife. 12 (2023) - p. , 2023

Link: https://doi.org/10.7554/..

15

Drosophila as a diet discovery tool for treating amino acid..:

Mele, Sarah ; Martelli, Felipe ; Lin, Jiayi...
Trends in Endocrinology & Metabolism. 34 (2023) 2 - p. 85-105 , 2023

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