E-LIB Suche - Ergebnisse für: Mitsuhashi, Satomi

1

A novel NODAL variant in a young embolic stroke patient wit..:

Kaburagi, Kei ; Hagiwara, Yuta ; Tachikawa, Keiji...
BMC Neurology. 24 (2024) 1 - p. , 2024

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

2

Neurological insights on two siblings with GM3 synthase def..:

Watanabe, Shiena ; Lei, Ming ; Nakagawa, Eiji...
Brain and Development. 45 (2023) 5 - p. 270-277 , 2023

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

3

Biallelic structural variations withinFGF12detected by long..:

Ohori, Sachiko ; Miyauchi, Akihiko ; Osaka, Hitoshi...
Life Science Alliance. 6 (2023) 8 - p. e202302025 , 2023

Link: https://doi.org/10.26508..

4

Large-scale discovery of novel neurodevelopmental disorder-..:

Hamanaka, Kohei ; Miyake, Noriko ; Mizuguchi, Takeshi...
Genome Medicine. 14 (2022) 1 - p. , 2022

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

5

Utility of tissue-specific gene expression scores for gene ..:

Kato, Daiki ; Mitsuhashi, Satomi ; Miya, Fuyuki...
Journal of Human Genetics. 67 (2022) 12 - p. 739-742 , 2022

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

6

Genome-wide survey of tandem repeats by nanopore sequencing..:

Mitsuhashi, Satomi ; Frith, Martin C. ; Matsumoto, Naomichi
BMC Medical Genomics. 14 (2021) 1 - p. , 2021

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

7

HERV-Derived Ervpb1 Is Conserved in Simiiformes, Exhibiting..:

Matsuzawa, Ayumi ; Lee, Jiyoung ; Nakagawa, So...
International Journal of Molecular Sciences. 22 (2021) 9 - p. 4504 , 2021

Link: https://doi.org/10.3390/..

8

Long-read whole-genome sequencing identified a partial MBD5..:

Ohori, Sachiko ; Tsuburaya, Rie S. ; Kinoshita, Masako...
Journal of Human Genetics. 66 (2021) 7 - p. 697-705 , 2021

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

9

Nanopore direct RNA sequencing detects DUX4-activated repea..:

Mitsuhashi, Satomi ; Nakagawa, So ; Sasaki-Honda, Mitsuru...
Human Molecular Genetics. 30 (2021) 7 - p. 552-563 , 2021

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

10

Complete sequencing of expandedSAMD12repeats by long-read s..:

Mizuguchi, Takeshi ; Toyota, Tomoko ; Miyatake, Satoko...
Brain. 144 (2021) 4 - p. 1103-1117 , 2021

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

11

Plasmid analysis of NDM metallo-β-lactamase-producing Enter..:

Hirabayashi, Aki ; Yahara, Koji ; Mitsuhashi, Satomi...
PLOS ONE. 16 (2021) 7 - p. e0231119 , 2021

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

12

Father-to-offspring transmission of extremely long NOTCH2NL..:

Fukuda, Hiromi ; Yamaguchi, Daisuke ; Nyquist, Kristofor...
Clinical Epigenetics. 13 (2021) 1 - p. , 2021

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

13

Erratum to: Complete sequencing of expanded SAMD12 repeats ..:

Mizuguchi, Takeshi ; Toyota, Tomoko ; Miyatake, Satoko...
Brain. 144 (2021) 8 - p. e67-e67 , 2021

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

14

Whole exome sequencing of fetal structural anomalies detect..:

Aoi, Hiromi ; Mizuguchi, Takeshi ; Suzuki, Toshifumi...
Journal of Human Genetics. 66 (2020) 5 - p. 499-507 , 2020

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

15

Reply to "GGCRepeat Expansion ofNOTCH2NLCis Rare in Europea..:

Doi, Hiroshi ; Okubo, Masaki ; Fukai, Ryoko...
Annals of Neurology. 88 (2020) 3 - p. 642-643 , 2020

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