Seiji Mizuno - Concepedia

Author

Seiji Mizuno

Also Known As

Baris Malbora, Mizuno, Seiji, S MIZUNO, S Mizuno, S. Mizuno, Saya Mizuno, Seiji MIZUNO, Seiji Mizuno, Seiji Mizuno Seiji Mizuno

236

Publications

5.8K

Citations

H-Index

145

Concepts

All Affiliations

Aichi Human Service Center Osaka International Cancer Institute National Center For Child Health and Development Aichi Developmental Disability Center Keio University

About

Seiji Mizuno is an author at Aichi Human Service Center specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	23	38	2.6K
2	Engineering	15	16	487
3	Natural Sciences	3	3	65
4	Health Sciences	2	2	29
5	Education	1	1	13

Seiji Mizuno

106

Publications

5.5K

Citations

H-Index

Page 1

	Year	Citations
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi, Nature Genetics Mendelian DisorderTranslational BiologyDisease MechanismGenetic DisorderGenetics	2012	515
Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome Yoko Aoki, Tetsuya Niihori, Toshihiro Banjo, The American Journal of Human Genetics Signal TransductionAutoimmune DiseaseGenetic DisorderGeneticsRas/mapk Pathway Syndrome	2013	328
Development of Compact and High-Performance Fuel Cell Stack Norishige Konno, Seiji Mizuno, Hiroya Nakaji, SAE International journal of alternative powertrains	2015	284
KDM6A Point Mutations Cause Kabuki Syndrome Noriko Miyake, Seiji Mizuno, Nobuhiko Okamoto, Human Mutation Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderMedicine	2012	210
<i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, American Journal of Medical Genetics Part A	2013	174
Coffin–Siris syndrome is a <scp>SWI</scp>/<scp>SNF</scp> complex disorder Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi, Clinical Genetics Css-suspected PatientsChromatinDevelopmental BiologySomatic VariantDisease Mechanism	2013	139
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano, Genetics in Medicine	2018	127
Molecular and clinical analysis of<i>RAF1</i>in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation Tomoko Kobayashi, Yoko Aoki, Tetsuya Niihori, Human Mutation GeneticsPathologyDisease Gene IdentificationCongenital Heart AnomalyClinical Genetics	2010	122
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients Masayo Kagami, Keisuke Nagasaki, Rika Kosaki, Genetics in Medicine	2017	122
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects Emma Hilton, Jennifer J. Johnston, Sandra Whalen, European Journal of Human Genetics Bcor AnalysisClinical DisordersOphthalmologyLenz Microphthalmia SyndromesNeurology	2009	108

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