E-LIB Suche - Ergebnisse für: Nitta, Kazuhiro R.

1

Author Correction: Myt1l safeguards neuronal identity by ac..:

Mall, Moritz ; Kareta, Michael S. ; Chanda, Soham...
Nature. 630 (2024) 8017 - p. E11-E11 , 2024

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

2

Novel ITPA variants identified by whole genome sequencing a..:

Omichi, Nanako ; Kishita, Yoshihito ; Nakama, Mina...
Journal of Human Genetics. 68 (2023) 9 - p. 649-652 , 2023

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

3

Severe spinal cord hypoplasia due to a novel ATAD3A compoun..:

Ebihara, Tomohiro ; Nagatomo, Taro ; Sugiyama, Yohei...
Molecular Genetics and Metabolism Reports. 33 (2022) - p. 100912 , 2022

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

4

Involvement ofGLCCI1in mouse spermatogenesis:

Takada, Masaru ; Fukuhara, Daisuke ; Takiura, Toshihiko...
The FASEB Journal. 37 (2022) 1 - p. , 2022

Link: https://doi.org/10.1096/..

5

Development of Leigh syndrome with a high probability of ca..:

Shimura, Masaru ; Onuki, Takanori ; Sugiyama, Yohei...
Mitochondrion. 63 (2022) - p. 1-8 , 2022

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

6

Impact of measuring heteroplasmy of a pathogenic mitochondr..:

Imai‐Okazaki, Atsuko ; Nitta, Kazuhiro R. ; Yatsuka, Yukiko...
Journal of Inherited Metabolic Disease. 45 (2022) 6 - p. 1143-1150 , 2022

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

7

Neonatal-onset mitochondrial disease: clinical features, mo..:

Ebihara, Tomohiro ; Nagatomo, Taro ; Sugiyama, Yohei...
Archives of Disease in Childhood - Fetal and Neonatal Edition. 107 (2021) 3 - p. 329-334 , 2021

Link: https://doi.org/10.1136/..

8

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Rec..:

Frazier, Ann E. ; Compton, Alison G. ; Kishita, Yoshihito...
Med. 2 (2021) 1 - p. 49-73.e10 , 2021

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

9

Genome sequencing and RNA‐seq analyses of mitochondrial com..:

Kishita, Yoshihito ; Shimura, Masaru ; Kohda, Masakazu...
Human Mutation. 42 (2021) 11 - p. 1422-1428 , 2021

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

10

Clinical heterogeneity in patients with m.4412G > A MT-TM m..:

Imai-Okazaki, Atsuko ; Yagi, Nobuyasu ; Nitta, Kazuhiro R....
Mitochondrion. 59 (2021) - p. 214-215 , 2021

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

11

Long-term prognosis and genetic background of cardiomyopath..:

Imai-Okazaki, Atsuko ; Matsunaga, Ayako ; Yatsuka, Yukiko...
International Journal of Cardiology. 341 (2021) - p. 48-55 , 2021

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

12

A homozygous variant inNDUFA8is associated with development..:

Yatsuka, Yukiko ; Kishita, Yoshihito ; Formosa, Luke E....
Clinical Genetics. 98 (2020) 2 - p. 155-165 , 2020

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

13

ANISEED 2019: 4D exploration of genetic data for an extende..:

Dardaillon, Justine ; Dauga, Delphine ; Simion, Paul...
Nucleic Acids Research. , 2019

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

14

The interaction landscape between transcription factors and..:

Zhu, Fangjie ; Farnung, Lucas ; Kaasinen, Eevi...
Nature. 562 (2018) 7725 - p. 76-81 , 2018

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

15

Impact of cytosine methylation on DNA binding specificities..:

Yin, Yimeng ; Morgunova, Ekaterina ; Jolma, Arttu...
Science. 356 (2017) 6337 - p. 502 ff. , 2017

Link: https://www.jstor.org/st..