Search Results1-20 of  36

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  • Kosho Tomoki ID: 9000280538640

    Articles in CiNii:1

    • Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C (2015)
  • Kosho Tomoki ID: 9000322731242

    Articles in CiNii:1

    • SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements (2016)
  • KOSHO TOMOKI ID: 9000018702648

    Department of Medical Genetics, Shinshu University (2011 from CiNii)

    Articles in CiNii:1

    • Sigmoid Colon Perforation Induced by the Vascular Type of Ehlers-Danlos Syndrome : Report of a Case (2011)
  • KOSHO Tomoki ID: 1000090276311

    Articles in CiNii:27

    • Genetic mechanisms leading to the development of Turner Syndrome (2000)
    • 日本における18トリソミーの予後 (2007)
    • Knowledge and understanding of medical school freshmen about heredity and genetics (2008)
  • KOSHO Tomoki ID: 9000001437405

    Department of Pediatrics, Perinatal Center, Saitama Municipal Hospital (2004 from CiNii)

    Articles in CiNii:2

    • Low-dose Acetazolamide Administration for Infantile Central Apnea (2004)
    • Postnatal Early Screening and Supportive Programs for Morbid Families with Difficulties in Child-rearing in Newborn Intensive Care Unit (2004)
  • KOSHO Tomoki ID: 9000006303523

    Division of Clinical and Molecular Genetics, Shinsyu University Hospital (2007 from CiNii)

    Articles in CiNii:1

    • Genetic Aspects of the Vascular Type of Ehlers-Danlos Syndrome (vEDS, EDSIV) in Japan (2007)
  • KOSHO Tomoki ID: 9000019147290

    Department of Medical Genetics, Shinshu University School of Medicine (2011 from CiNii)

    Articles in CiNii:1

    • Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure (2011)
  • KOSHO Tomoki ID: 9000254355738

    Division of Molecular and Clinical Genetics, Shinshu University Hospital (2008 from CiNii)

    Articles in CiNii:1

    • Knowledge and understanding of medical school freshmen about heredity and genetics (2008)
  • KOSHO Tomoki ID: 9000258246446

    信州大学医学部附属病院遺伝子診療部 (2008 from CiNii)

    Articles in CiNii:1

    • 遺伝子診療部の活動と最近のトピック (2008)
  • KOSHO Tomoki ID: 9000258246726

    Department of Medical Genetics, Shinshu University School of Medicine (2011 from CiNii)

    Articles in CiNii:1

    • Discovery and Delineation of a New Type of Ehlers-Danlos Syndrome Caused by Dermatan 4-O-sulfotransferase Deficiency (2011)
  • KOSHO Tomoki ID: 9000258251028

    Division of Molecular and Clinical Genetics, Shinshu University Hospital (2009 from CiNii)

    Articles in CiNii:1

    • A program for medical students to experience nursing services:Educational significance and related issues (2009)
  • KOSHO Tomoki ID: 9000262363505

    Department of Medical Genetics, Shinshu University School of Medicine (2013 from CiNii)

    Articles in CiNii:1

    • Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients (2013)
  • KOSHO Tomoki ID: 9000263059948

    Division of Clinical and Molecular Genetics, Shinshu University School of Medicine (2013 from CiNii)

    Articles in CiNii:1

    • Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan (2013)
  • KOSHO Tomoki ID: 9000283424056

    Articles in CiNii:1

    • Less Frequent NSD1-Intragenic Deletions in Japanese Sotos Syndrome: Aalysis of 30 Patients by NSD1-Exon Array CGH, Quantitative Fluorescent Duplex PCR, and Fluorescence In Situ Hybridization (2007)
  • KOSHO Tomoki ID: 9000292880752

    信州大学医学部附属病院遺伝子診療部 (2005 from CiNii)

    Articles in CiNii:1

    • 「遺伝子診療部」「産科婦人科学」 (2005)
  • KOSHO Tomoki ID: 9000389942368

    Center for Medical Genetics, Shinshu University Hospital (2018 from CiNii)

    Articles in CiNii:1

    • Successful treatment of X-linked sideroblastic anemia with <i>ALAS2</i> R452H mutation using vitamin B<sub>6</sub> (2018)
  • KOSHO Tomoki ID: 9000397425562

    Center for Medical Genetics, Shinshu University Hospital|Department of Medical Genetics, Shinshu University School of Medicine (2018 from CiNii)

    Articles in CiNii:1

    • Examining the Validity of Efforts of the Muscular Dystrophy Medical Network in Nagano : A Questionnaire Study (2018)
  • KOSHO Tomoki ID: 9000399764032

    信州大学医学部遺伝医学教室|信州大学医学部附属病院遺伝子医療研究センター (2018 from CiNii)

    Articles in CiNii:1

    • For Whom Does Medical Genetics Exist ?―Shed Light to the Place with No Light ! (2018)
  • KOSHO Tomoki ID: 9000403273732

    Center of Medical Genetics, Shinshu University Hospital (2019 from CiNii)

    Articles in CiNii:1

    • A Case of Hereditary Breast and Ovarian Cancer Syndrome with Serous Tubal Intraepithelial Lesions in Bilateral Fimbriae Resected by Laparoscopic Risk-reducing Salpingo-oophorectomy (2019)
  • Kosho Tomoki ID: 9000237886644

    Articles in CiNii:1

    • Successful Pregnancy and Lactation Outcome in a Patient With Gaucher Disease Receiving Enzyme Replacement Therapy, and the Subsequent Distribution and Excretion of Imiglucerase in Human Breast Milk (2010)
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