原著論文1
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J Hum Genet
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原著論文2
Shihara D, Miyado M, Nakabayashi K et al.
Aromatase excess syndrome in a family with upstream deletion of CYP19A1
Clin Endocrinol
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原著論文3
Izumi Y, Suzuki E, Kanzaki S et al.
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原著論文4
Nakashima S, Ohishi A, Takada F et al.
Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements.
J Hum Genet
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原著論文5
Izumi Y, Musha I, Suzuki E, et al.
Hypogonadotropic hypogonadism in a female patient previously diagnosed as having Waardenburg syndrome due to a SOX10 mutation.
endocrine
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原著論文6
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Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex.
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原著論文7
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Fertility preservation in a family with a novel NR5A1 mutation.
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原著論文8
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Copy-Number Variations in Y Chromosomal Azoospermia Factor Regions Identified by Multiplex Ligation-Dependent Probe Amplification.
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原著論文9
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Molecular basis of non-syndromic hypospadias: Systematic mutation screening and genome-wide copy-number analysis of 62 patients.
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原著論文10
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A Novel Hemizygous Mutation of MAMLD1 in a Patient with 46,XY Complete Gonadal Dysgenesis.
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原著論文11
Igarashi M, Wada Y, Kojima Y, et al.
Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias.
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原著論文12
Igarashi M, Mikami H, Katsumi M, et al.
SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation.
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原著論文13
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Microhomology-Mediated Microduplication in the Y Chromosomal Azoospermia Factor a (AZFa) Region in a Male with Mild Asthenozoospermia.
Cytogenetic Genome Research
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