Search Results1-20 of  42

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  • Fukami Maki ID: 9000010618696

    Articles in CiNii:1

    • Research frontier: MAMLD1 (CXorf6): a new gene for hypospadias (2008)
  • Fukami Maki ID: 9000305634781

    Articles in CiNii:1

    • Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature (2015)
  • Fukami Maki ID: 9000329423185

    Articles in CiNii:1

    • Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri–Weill dyschondrosteosis (2016)
  • Fukami Maki ID: 9000331880628

    Articles in CiNii:1

    • Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ⅰb in a patient with multilocus imprinting disturbance : a female-dominant phenomenon? (2016)
  • FUKAMI MAKI ID: 9000001230217

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development (2012 from CiNii)

    Articles in CiNii:8

    • Statural Growth in 31 Japanese Patients with SHOX Haploinsufficiency : Support for a Disadvantageous Effect of Gonadal Estrogens (2004)
    • Association of Micropenis with Pro185Ala Polymorphism of the Gene for Aryl Hydrocarbon Receptor Repressor Involved in Dioxin Signaling (2005)
    • Clinical findings and P450 Oxidoreductase (POR) gene analysis in Antley-Bixler syndrome with abnormal genitalia (2004)
  • FUKAMI Maki ID: 1000040265872

    Articles in CiNii:33

    • Pseudoautosomal growth gene : Cloning of a candidate gene (SHOX) and mutational analysis in idiopathic short atature. (1998)
    • Wide phenotypic spectrum of GATA3 haplo-insufficiency : Analysis of 11 Japanese families (2004)
    • POR異常症における表現型の決定因子 : 遺伝子型と胎児期特異的男性ホルモン産生経路 (backdoor pathway) (2006)
  • FUKAMI Maki ID: 9000002185743

    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development (2008 from CiNii)

    Articles in CiNii:1

    • Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR (2008)
  • FUKAMI Maki ID: 9000019240312

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development (2012 from CiNii)

    Articles in CiNii:1

    • A Commentary on Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias (2012)
  • FUKAMI Maki ID: 9000256892567

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development (2013 from CiNii)

    Articles in CiNii:1

    • Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification (2013)
  • FUKAMI Maki ID: 9000257800790

    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development (2004 from CiNii)

    Articles in CiNii:1

    • Statural Growth in 31 Japanese Patients with SHOX Haploinsufficiency: Support for a Disadvantageous Effect of Gonadal Estrogens (2004)
  • FUKAMI Maki ID: 9000257800935

    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development (2005 from CiNii)

    Articles in CiNii:1

    • Association of Micropenis with Pro185Ala Polymorphism of the Gene for Aryl Hydrocarbon Receptor Repressor Involved in Dioxin Signaling (2005)
  • FUKAMI Maki ID: 9000257804035

    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan (2010 from CiNii)

    Articles in CiNii:1

    • Diabetes Mellitus in a Japanese Girl with HDR Syndrome and GATA3 Mutation (2010)
  • FUKAMI Maki ID: 9000263058188

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development (2013 from CiNii)

    Articles in CiNii:1

    • Submicroscopic deletion involving fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency (2013)
  • FUKAMI Maki ID: 9000263058377

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development (2013 from CiNii)

    Articles in CiNii:1

    • A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency (2013)
  • FUKAMI Maki ID: 9000265572469

    Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development (2008 from CiNii)

    Articles in CiNii:1

    • MAMLD1 (CXorf6) is a New Gene for Hypospadias (2008)
  • FUKAMI Maki ID: 9000402823220

    Articles in CiNii:1

    • A Case Study on Education and Use of Emergency Managers in the United States (2010)
  • FUKAMI Maki ID: 9000403275031

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development (2019 from CiNii)

    Articles in CiNii:1

    • Search for methylation biomarker of hypospadias using SD-AFLP method (2019)
  • FUKAMI Maki ID: 9000404093086

    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan (2019 from CiNii)

    Articles in CiNii:1

    • Exploring disease-specific methylated CpGs in human male genital abnormalities by using MSD-AFLP (2019)
  • Fukami Maki ID: 9000255784096

    Department of Pediatrics, Keio University School of Medicine (1995 from CiNii)

    Articles in CiNii:1

    • Lack of Mutations in P450scc Gene (CYP11A) in Six Japanese Patients with Congenital Lipoid Adrenal Hyperplasia (1995)
  • Fukami Maki ID: 9000256286874

    Department of Pediatrics, Keio University School of Medicine (1994 from CiNii)

    Articles in CiNii:1

    • Altered Sequence of Pubertal Changes and Accelerated Bone Maturation in A 10-Year-Old Japanese Boy with Nonendocrine Short Stature Treated with GH. (1994)
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