E-LIB Suche - Ergebnisse für: BAI, REN‐KUI

1

Phenotypic continuum of NFU1‐related disorders:

Kaiyrzhanov, Rauan ; Zaki, Maha S. ; Lau, Tracy...
Annals of Clinical and Translational Neurology. 9 (2022) 12 - p. 2025-2035 , 2022

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

2

Bi-allelic LETM1 variants perturb mitochondrial ion homeost..:

Kaiyrzhanov, Rauan ; Mohammed, Sami E.M. ; Maroofian, Reza...
The American Journal of Human Genetics. 109 (2022) 9 - p. 1692-1712 , 2022

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

3

Characterization of a possible founder synonymous variant i..:

Chen, Robert ; Diaz‐Miranda, Maria Alejandra ; Aref‐Eshghi, Erfan...
Human Mutation. 43 (2022) 12 - p. 1837-1843 , 2022

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

4

Interference of nuclear mitochondrial DNA segments in mitoc..:

Bai, Renkui ; Cui, Hong ; Devaney, Joseph M....
Genetics in Medicine. 23 (2021) 8 - p. 1514-1521 , 2021

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

5

ZMYND11variants are a novel cause of centrotemporal and gen..:

Oates, Stephanie ; Absoud, Michael ; Goyal, Sushma...
Clinical Genetics. 100 (2021) 4 - p. 412-429 , 2021

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

6

Comment on the criteria for interpretation of mitochondrial..:

Bai, Renkui ; Balog, Amanda ; Kiesler, Patricia..
Genetics in Medicine. 22 (2020) 8 - p. 1418-1419 , 2020

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

7

Mitochondrial genome variant m.3250T>C as a possible risk f..:

Campbell, Teresa ; Lou, Xiaoting ; Slone, Jesse...
Human Mutation. 42 (2020) 2 - p. 177-188 , 2020

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

8

First report of childhood progressive cerebellar atrophy du..:

Bai, Renkui ; Haude, Katrina ; Yang, Edward..
Clinical Genetics. 97 (2020) 5 - p. 793-794 , 2020

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

9

Specifications of the ACMG/AMP standards and guidelines for..:

McCormick, Elizabeth M. ; Lott, Marie T. ; Dulik, Matthew C....
Human Mutation. 41 (2020) 12 - p. 2028-2057 , 2020

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

10

Congenital lactic acidosis, cerebral cysts and pulmonary hy..:

Apatean, Delia ; Rakic, Bojana ; Brunel-Guitton, Catherine...
Molecular Genetics and Metabolism Reports. 18 (2019) - p. 32-38 , 2019

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

11

Congenital lactic acidosis, cerebral cysts and pulmonary hy..:

Apatean, Delia ; Rakic, Bojana ; Brunel-Guitton, Catherine...
Molecular Genetics and Metabolism Reports. 19 (2019) - p. 100472 , 2019

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

12

A dominant autoinflammatory disease caused by non-cleavable..:

Tao, Panfeng ; Sun, Jinqiao ; Wu, Zheming...
Nature. 577 (2019) 7788 - p. 109-114 , 2019

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

13

Mitochondrial single-stranded DNA binding protein novel de ..:

Gustafson, Margaret A. ; McCormick, Elizabeth M. ; Perera, Lalith...
PLOS ONE. 14 (2019) 9 - p. e0221829 , 2019

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

14

MSeqDR mvTool: A mitochondrial DNA Web and API resource for..:

Shen, Lishuang ; Attimonelli, Marcella ; Bai, Renkui...
Human Mutation. 39 (2018) 6 - p. 806-810 , 2018

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

15

Novel pathogenic COX20 variants causing dysarthria, ataxia,..:

Otero, Maria G. ; Tiongson, Emmanuelle ; Diaz, Frank...
Annals of Clinical and Translational Neurology. 6 (2018) 1 - p. 154-160 , 2018

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