E-LIB Suche - Ergebnisse für: Ohori, Sachiko

1

Complex chromosomal 6q rearrangements revealed by combined ..:

Ohori, Sachiko ; Numabe, Hironao ; Mitsuhashi, Satomi...
Genomics. 116 (2024) 5 - p. 110894 , 2024

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

2

Long-term clinical course of adult-onset refractory epileps..:

Tsuburaya-Suzuki, Rie ; Ohori, Sachiko ; Hamanaka, Kohei...
Frontiers in Genetics. 15 (2024) - p. , 2024

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

3

Long-read sequencing revealing intragenic deletions in exom..:

Fukuda, Hiromi ; Mizuguchi, Takeshi ; Doi, Hiroshi...
Journal of Human Genetics. 68 (2023) 10 - p. 689-697 , 2023

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

4

Brain monoamine vesicular transport disease caused by homoz..:

Saida, Ken ; Maroofian, Reza ; Sengoku, Toru...
Genetics in Medicine. 25 (2023) 1 - p. 90-102 , 2023

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

5

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..

6

Heterozygous c.175C>T variant in PURA gene causes severe de..:

Noda, Yusuke ; Kido, Jun ; Misumi, Yohei...
Clinical Case Reports. 11 (2023) 9 - p. , 2023

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

7

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/..

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

A pipeline for complete characterization of complex germlin..:

Mitsuhashi, Satomi ; Ohori, Sachiko ; Katoh, Kazutaka..
Genome Medicine. 12 (2020) 1 - p. , 2020

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

10

A novel PAK1 variant causative of neurodevelopmental disord..:

Ohori, Sachiko ; Mitsuhashi, Satomi ; Ben-Haim, Revital...
Journal of Human Genetics. 65 (2020) 5 - p. 481-485 , 2020

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

11

Biallelic structural variations within FGF12 detected by lo..:

Ohori, Sachiko ; Miyauchi, Akihiko ; Osaka, Hitoshi...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10248215/. , 2023

Link: http://www.ncbi.nlm.nih...

12

Heterozygous c.175C>T variant in PURA gene causes severe de..:

Noda, Yusuke ; Kido, Jun ; Misumi, Yohei...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10483498/. , 2023

Link: http://www.ncbi.nlm.nih...

13

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

Hamanaka, Kohei ; Miyake, Noriko ; Mizuguchi, Takeshi...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9040275/. , 2022

Link: http://www.ncbi.nlm.nih...

14

A pipeline for complete characterization of complex germlin..:

Mitsuhashi, Satomi ; Ohori, Sachiko ; Katoh, Kazutaka..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7393826/. , 2020

Link: http://www.ncbi.nlm.nih...

15

Heterozygous c.175C>T variant in PURA gene causes severe de..:

Yusuke Noda ; Jun Kido ; Yohei Misumi...
https://doi.org/10.1002/ccr3.7779. , 2023

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