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Emi Shirahata
Observed names:
EMI SHIRAHATA,
Emi Shirahata,,
Shirahata, Emi
Observed institutions:
Yamagata University,
Yamagata City Hospital Saiseikan,
Yamagata University Hospital
OpenAlex ID:
A5007949922
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder
2018
·
Atsushi Takata
, Noriko Miyake
, et al.
·
Cell Reports
·
172
PDF
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease
2004
·
Kazuki Kijima
, Chikahiko Numakura
, et al.
·
Journal of Human Genetics
·
57
Ankyrin-G Regulates Inactivation Gating of the Neuronal Sodium Channel, Nav1.6
2006
·
Emi Shirahata
, Hirohide Iwasaki
, et al.
·
Journal of Neurophysiology
·
40
Molecular diagnosis of 405 individuals with autism spectrum disorder
2023
·
Noriko Miyake
, Yoshinori Tsurusaki
, et al.
·
European Journal of Human Genetics
·
27
PDF
Genetic Analysis of Shwachman-Diamond Syndrome: Phenotypic Heterogeneity in Patients Carrying Identical SBDS Mutations
2005
·
Takako Kawakami
, Tetsuo Mitsui
, et al.
·
The Tohoku Journal of Experimental Medicine
·
27
PDF
Screening of the early growth response 2 gene in Japanese patients with Charcot–Marie–Tooth disease type 1
2003
·
Chikahiko Numakura
, Emi Shirahata
, et al.
·
Journal of the Neurological Sciences
·
27
Congenital Central Hypoventilation Syndrome: A Novel Mutation of the RET Gene in an Isolated Case.
2002
·
MASAYO KANAI
, CHIKAHIKO NUMAKURA
, et al.
·
The Tohoku Journal of Experimental Medicine
·
25
PDF
Neonatal hyperbilirubinemia and the bilirubin uridine diphosphate‐glucuronosyltransferase gene: The common −3263T > G mutation of phenobarbital response enhancer module is not associated with the neonatal hyperbilirubinemia in Japanese
2005
·
Masayo Kanai
, Kazuki Kijima
, et al.
·
Pediatrics International
·
20
Compound heterozygous PMP22 deletion mutations causing severe Charcot–Marie–Tooth disease type 1
2010
·
Akiko Abe
, Kazuyuki Nakamura
, et al.
·
Journal of Human Genetics
·
19
Clinical Characteristics of Fragile X Syndrome Patients in Japan
2021
·
Tetsuya Okazaki
, Kaori Adachi
, et al.
·
Yonago acta medica
·
6
PDF
Three patients with different phenotypes in a family with chromosome 22q11.2 deletions
2000
·
Tomoharu Akiba,
, Akiko Odake,
, et al.
·
Pediatrics International
·
6
Clinical Characteristics of Fragile X Syndrome Patients in Japan
2021
·
岡崎, 哲也
, 2906
, et al.
·
Tottori University research result repository (Tottori University)
Temporary Hyperbilirubinemia in Two Patients During Treatment for Idiopathic Nephrotic Syndrome
2004
·
Lijun Liang
, Akira Matsunaga
, et al.
·
Yamagata University Academic Repository (Yamagata University)
PDF
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Works count:
13
Citation count:
426
H-index:
9
I10-index:
9
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