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1. Full Text A message for 2020
by Matsumoto, Naomichi
Journal of human genetics, ISSN 1434-5161, 04/2020, Volume 65, Issue 4, pp. 351 - 353
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology
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2. Full Text The 2019 JHG Young Scientist Award
by Matsumoto, Naomichi
Journal of human genetics, ISSN 1434-5161, 03/2020, Volume 65, Issue 3, pp. 207 - 207
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology
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3. Full Text A message for 2019
by Matsumoto, Naomichi
Journal of human genetics, ISSN 1434-5161, 05/2019, Volume 64, Issue 5, pp. 355 - 357
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetics | Technology | Metabolism, Inborn Errors - genetics | Humans | Index Medicus
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4. Full Text The 2018 JHG Young Scientist Award
by Matsumoto, Naomichi
Journal of human genetics, ISSN 1434-5161, 01/2019, Volume 64, Issue 1, pp. 1 - 1
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Index Medicus
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5. Full Text A message for 2018
by Matsumoto, Naomichi
Journal of human genetics, ISSN 1434-5161, 04/2018, Volume 63, Issue 4, pp. 393 - 396
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Index Medicus
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6. Full Text The 2017 JHG Young Scientist Award
by Matsumoto, Naomichi
Journal of human genetics, ISSN 1434-5161, 12/2017, Volume 62, Issue 12, pp. 1007 - 1007
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cell adhesion & migration
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7. Full Text The 2016 JHG Young Scientist Award
by Matsumoto, Naomichi
Journal of human genetics, ISSN 1434-5161, 05/2017, Volume 62, Issue 5, pp. 521 - 521
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology
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8. Full Text A message for 2017
by Matsumoto, Naomichi
Journal of human genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 5, pp. 517 - 519
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Index Medicus
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9. Full Text A message for 2018 /692/308/2056 editorial
by Matsumoto, Naomichi
Journal of human genetics, ISSN 1434-5161, 04/2018, Volume 63, Issue 4, pp. 393 - 396
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10. Full Text A message for 2016
by Matsumoto, Naomichi
Journal of human genetics, ISSN 1434-5161, 06/2016, Volume 61, Issue 6, pp. 467 - 469
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Index Medicus
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11. Full Text Long-read sequencing for rare human genetic diseases
by Mitsuhashi, Satomi and Matsumoto, Naomichi
Journal of human genetics, ISSN 1434-5161, 01/2020, Volume 65, Issue 1, pp. 11 - 19
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genomes | Genetic disorders | Mutation | Nucleotide sequence | Index Medicus
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12. Full Text Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci
by Takata, Atsushi and Matsumoto, Naomichi and Kato, Tadafumi
Nature communications, ISSN 2041-1723, 02/2017, Volume 8, Issue 1, pp. 14519 - 14519
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Genetic Predisposition to Disease | Genome-Wide Association Study | RNA Splice Sites - genetics | Humans | RNA, Messenger - genetics | RNA, Messenger - metabolism | Regulatory Sequences, Nucleic Acid - genetics | Brain - metabolism | Protein Isoforms - metabolism | Schizophrenia - genetics | RNA Splicing - genetics | Brain - pathology | Polymorphism, Single Nucleotide - genetics | Genome, Human | Protein Isoforms - genetics | Quantitative Trait Loci - genetics | Index Medicus
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13. Full Text A message for 2015
by Matsumoto, Naomichi
Journal of human genetics, ISSN 1434-5161, 03/2015, Volume 60, Issue 3, pp. 109 - 111
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Anniversaries and Special Events | Periodicals as Topic - trends | Genetics, Medical | Periodicals as Topic - standards | Humans | Journal Impact Factor | Index Medicus
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14. Full Text Human genetic variation database, a reference database of genetic variations in the Japanese population
by Higasa, Koichiro and Miyake, Noriko and Yoshimura, Jun and Okamura, Kohji and Niihori, Tetsuya and Saitsu, Hirotomo and Doi, Koichiro and Shimizu, Masakazu and Nakabayashi, Kazuhiko and Aoki, Yoko and Tsurusaki, Yoshinori and Morishita, Shinichi and Kawaguchi, Takahisa and Migita, Osuke and Nakayama, Keiko and Nakashima, Mitsuko and Mitsui, Jun and Narahara, Maiko and Hayashi, Keiko and Funayama, Ryo and Yamaguchi, Daisuke and Ishiura, Hiroyuki and Ko, Wen-Ya and Hata, Kenichiro and Nagashima, Takeshi and Yamada, Ryo and Matsubara, Yoichi and Umezawa, Akihiro and Tsuji, Shoji and Matsumoto, Naomichi and Matsuda, Fumihiko
Journal of human genetics, ISSN 1434-5161, 06/2016, Volume 61, Issue 6, pp. 547 - 553
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetics, Population | Gene Frequency | Humans | Japan | Selection, Genetic | Databases, Genetic | Genotype | Exome | Genetic Variation | Alleles | High-Throughput Nucleotide Sequencing | Genome, Human | Genomics - methods | Web Browser | Quality Control | Index Medicus | Original
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15. Full Text Recent progress in genetics of Marfan syndrome and Marfan-associated disorders
by Mizuguchi, Takeshi and Matsumoto, Naomichi
Journal of human genetics, ISSN 1434-5161, 01/2007, Volume 52, Issue 1, pp. 1 - 12
Human Genetics | Neurosciences | TGFβ signaling | Genetic heterogeneity | Marfan syndrome | TGFBR1 | Cell Biology | TGFBR2 | Loeys–Dietz syndrome | Biomedicine | Immunology | Familial thoracic aortic aneurysms and dissections | Cancer Research | Molecular Medicine | FBN1 | Loeys-Dietz syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - metabolism | Aortic Aneurysm, Thoracic - genetics | Fibrillin-1 | Craniosynostoses - genetics | Humans | Fibrillins | Marfan Syndrome - genetics | Animals | Transforming Growth Factor beta - genetics | Aortic Aneurysm, Thoracic - metabolism | Germ-Line Mutation | Marfan Syndrome - metabolism | Mice | Microfilament Proteins - metabolism | Models, Genetic | Microfilament Proteins - genetics | Transforming Growth Factor beta - metabolism | Abnormalities, Multiple - genetics | Craniosynostoses - metabolism | Genetic aspects | Index Medicus
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16. Full Text A message from the new Editor-in-Chief
by Matsumoto, Naomichi
Journal of human genetics, ISSN 1434-5161, 01/2014, Volume 59, Issue 1, pp. 1 - 1
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology
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17. Full Text Reply to “Reduced CYFIP2 Stability by Arg87 Variants Causing Human Neurological Disorders”
by Nakashima, Mitsuko and Ogata, Kazuhiro and Saitsu, Hirotomo and Matsumoto, Naomichi
Annals of neurology, ISSN 0364-5134, 11/2019, Volume 86, Issue 5, pp. 805 - 806
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Fragile X Mental Retardation Protein | Epilepsy, Generalized | Humans | Nervous System Diseases | Neurological diseases | Index Medicus
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18. Full Text Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases
by Mizuguchi, Takeshi and Toyota, Tomoko and Adachi, Hiroaki and Miyake, Noriko and Matsumoto, Naomichi and Miyatake, Satoko
Journal of human genetics, ISSN 1434-5161, 03/2019, Volume 64, Issue 3, pp. 191 - 197
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Prognosis | Introns | Humans | Repressor Proteins - genetics | Male | Whole Genome Sequencing - methods | Pedigree | Adolescent | Female | Mutagenesis, Insertional | Genome, Human | Sequence Analysis, DNA - methods | Epilepsies, Myoclonic - genetics | Disease | Nucleotide sequence | Myoclonus | Epilepsy | Insertion | Genomes | Algorithms | New combinations | DNA repeat expansion | Genetics | Genetic testing | Bioinformatics | Deoxyribonucleic acid--DNA | DNA sequencing | Index Medicus
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19. Full Text Genetics: Clinical exome sequencing in neurology practice
by Miyatake, Satoko and Matsumoto, Naomichi
Nature reviews. Neurology, ISSN 1759-4758, 12/2014, Volume 10, Issue 12, pp. 676 - 678
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Molecular Diagnostic Techniques - ethics | Molecular Diagnostic Techniques - methods | Neurology - ethics | Sequence Analysis - methods | Humans | Genetic Testing - ethics | Molecular Diagnostic Techniques - economics | Nervous System Diseases - genetics | Genetic Testing - methods | Nervous System Diseases - diagnosis | Exome | Neurology - economics | Genetic Testing - economics | Neurology - methods | Sequence Analysis - economics | Sequence Analysis - ethics | Index Medicus
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20. Full Text The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome
by Nakashima, Mitsuko and Miyajima, Masakazu and Sugano, Hidenori and Iimura, Yasushi and Kato, Mitsuhiro and Tsurusaki, Yoshinori and Miyake, Noriko and Saitsu, Hirotomo and Arai, Hajime and Matsumoto, Naomichi
Journal of human genetics, ISSN 1434-5161, 12/2014, Volume 59, Issue 12, pp. 691 - 693
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Sturge-Weber Syndrome - physiopathology | Humans | Child, Preschool | GTP-Binding Protein alpha Subunits - genetics | Male | Sturge-Weber Syndrome - genetics | GTP-Binding Protein alpha Subunits, Gq-G11 | Age of Onset | Port-Wine Stain - physiopathology | Female | High-Throughput Nucleotide Sequencing | Mutation | Genome, Human | Child | Port-Wine Stain - genetics | Wine | Meninges | Genomes | Next-generation sequencing | Exons | Index Medicus
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