I agree that this site is using cookies. You can find further informations here.
X
Miyamoto, Sachiko
241  results:
Search for persons X
?
1

RNA sequencing and target long-read sequencing reveal an in..:

Kawakami, Ryota ; Hiraide, Takuya ; Watanabe, Kazuki...
Journal of Human Genetics.  69 (2023)  2 - p. 91-99 , 2023
Link: https://doi.org/10.1038/..
 
?
2

Identification of pathogenic deep intronic variant and exon..:

Miyamoto, Sachiko ; Nakamura, Kazuyuki ; Kato, Mitsuhiro..
Annals of Human Genetics.  87 (2023)  4 - p. 196-202 , 2023
Link: https://doi.org/10.1111/..
 
?
3

A deep intronic TCTN2 variant activating a cryptic exon pre..:

Hiraide, Takuya ; Shimizu, Kenji ; Okumura, Yoshinori...
Journal of Human Genetics.  68 (2023)  7 - p. 499-505 , 2023
Link: https://doi.org/10.1038/..
 
?
4

A novel de novo KCNB1 variant altering channel characterist..:

Hiraide, Takuya ; Akita, Tenpei ; Uematsu, Kenji...
Journal of Human Genetics.  68 (2022)  1 - p. 25-31 , 2022
Link: https://doi.org/10.1038/..
 
?
5

Two novel heterozygous variants in ATP1A3 cause movement di..:

Furukawa, Shogo ; Miyamoto, Sachiko ; Fukumura, Shinobu...
Human Genome Variation.  9 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
?
6

Genome sequencing and RNA sequencing of urinary cells revea..:

Hiraide, Takuya ; Shimizu, Kenji ; Miyamoto, Sachiko...
Journal of Human Genetics.  67 (2022)  7 - p. 387-392 , 2022
Link: https://doi.org/10.1038/..
 
?
7

LAMA1 variants were identified Joubert syndrome patient:

Noguchi, Yutaro ; Hinokuma, Nodoka ; Tominaga, Makiko..
Pediatrics International.  64 (2022)  1 - p. , 2022
Link: https://doi.org/10.1111/..
 
?
8

An intronic GNAO1 variant leading to in-frame insertion cau..:

Miyamoto, Sachiko ; Nakashima, Mitsuko ; Fukumura, Shinobu..
neurogenetics.  23 (2022)  2 - p. 129-135 , 2022
Link: https://doi.org/10.1007/..
 
?
9

Novel HSD17B4 Variants Cause Progressive Leukodystrophy in ..:

Yamamoto, Akiyo ; Fukumura, Shinobu ; Habata, Yumi...
Child Neurology Open.  8 (2021)  - p. 2329048X2110486 , 2021
Link: https://doi.org/10.1177/..
 
?
10

Comprehensive genetic analysis confers high diagnostic yiel..:

Miyamoto, Sachiko ; Kato, Mitsuhiro ; Hiraide, Takuya...
Journal of Human Genetics.  66 (2021)  11 - p. 1061-1068 , 2021
Link: https://doi.org/10.1038/..
 
?
11

SCN8A-related developmental and epileptic encephalopathy wi..:

Negishi, Yutaka ; Aoki, Yusuke ; Itomi, Kazuya...
Brain and Development.  43 (2021)  7 - p. 804-808 , 2021
Link: https://doi.org/10.1016/..
 
?
12

A boy with biallelic frameshift variants in TTC5 and brain ..:

Miyamoto, Sachiko ; Kato, Mitsuhiro ; Sugiyama, Kenji...
Journal of Human Genetics.  66 (2021)  12 - p. 1189-1192 , 2021
Link: https://doi.org/10.1038/..
 
?
13

A case of de novo splice site variant in SLC35A2 showing de..:

Miyamoto, Sachiko ; Nakashima, Mitsuko ; Ohashi, Tsukasa...
Molecular Genetics & Genomic Medicine.  7 (2019)  8 - p. , 2019
Link: https://doi.org/10.1002/..
 
?
14

Nanopore sequencing reveals a structural alteration of mirr..:

Miyamoto, Sachiko ; Aoto, Kazushi ; Hiraide, Takuya...
Congenital Anomalies.  60 (2019)  4 - p. 120-125 , 2019
Link: https://doi.org/10.1111/..
 
?
15

DOC2b is a SNARE regulator of glucose-stimulated delayed in..:

Miyazaki, Mutsuko ; Emoto, Masahiro ; Fukuda, Naofumi...
Biochemical and Biophysical Research Communications.  384 (2009)  4 - p. 461-465 , 2009
Link: https://doi.org/10.1016/..
 
1-15