Search Results - "Ishikiriyama, S"

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  1. 1
    Costello syndrome with decreased gene expression of elastin in cultured dermal fibroblasts

    Costello syndrome with decreased gene expression of elastin in cultured dermal fibroblasts by Hatamochi, A, Nagayama, H, Kuroda, K, Shinkai, H, Ishikiriyama, S, Kobayashi, M, Kobayashi, K

    Published in Dermatology (Basel) (01-01-2000)
    “…We report a case of Costello syndrome. A 2-year-old Japanese boy presented with a 'coarse' face, curly hair and loose skin of the dorsal aspect of the hands…”
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  2. 2
    Clinical and cytogenetic studies of the Prader-Willi syndrome: evidence of phenotype-karyotype correlation

    Clinical and cytogenetic studies of the Prader-Willi syndrome: evidence of phenotype-karyotype correlation by NIIKAWA, N, ISHIKIRIYAMA, S

    Published in Human genetics (1985)
    “…Twenty-seven patients with the presumed diagnosis of Prader-Willi syndrome (PWS) were studied clinically and cytogenetically. The patients were classified into…”
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  3. 3
    New diagnostic method for Pallister-Killian syndrome: detection of i(12p) in interphase nuclei of buccal mucosa by fluorescence in situ hybridization

    New diagnostic method for Pallister-Killian syndrome: detection of i(12p) in interphase nuclei of buccal mucosa by fluorescence in situ hybridization by Ohashi, H, Ishikiriyama, S, Fukushima, Y

    Published in American journal of medical genetics (01-01-1993)
    “…Detection of the supernumerary isochromosome 12p [i(12p)] was performed on buccal smear preparations from 2 patients with Pallister-Killian syndrome, 21…”
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  4. 4
    Chromosome 4

    Chromosome 4 by Ishikiriyama, S

    Published in Ryoikibetsu shokogun shirizu (2001)
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  5. 5
    Thrombocytopenia-absent radius, TAR syndrome

    Thrombocytopenia-absent radius, TAR syndrome by Ishikiriyama, S

    Published in Ryoikibetsu shokogun shirizu (2001)
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  6. 6
    Thoracic dysplasia-hydrocephalus syndrome

    Thoracic dysplasia-hydrocephalus syndrome by Ishikiriyama, S

    Published in Ryoikibetsu shokogun shirizu (2001)
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  7. 7
    Contractures, congenital lethal Finnish type

    Contractures, congenital lethal Finnish type by Ishikiriyama, S

    Published in Ryoikibetsu shokogun shirizu (2001)
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  8. 8
    Thumb, triphalangeal

    Thumb, triphalangeal by Ishikiriyama, S

    Published in Ryoikibetsu shokogun shirizu (2001)
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  9. 9
    Colpocephaly

    Colpocephaly by Ishikiriyama, S

    Published in Ryoikibetsu shokogun shirizu (2001)
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  10. 10
    Congenital hypothalamic hamartoma syndrome

    Congenital hypothalamic hamartoma syndrome by Ishikiriyama, S

    Published in Ryoikibetsu shokogun shirizu (2001)
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  11. 11
    Corneal dystrophy, endothelial

    Corneal dystrophy, endothelial by Ishikiriyama, S

    Published in Ryoikibetsu shokogun shirizu (2001)
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  12. 12
    Color blindness, blue monocone-monochromatic

    Color blindness, blue monocone-monochromatic by Ishikiriyama, S

    Published in Ryoikibetsu shokogun shirizu (2001)
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  13. 13
    Thomas syndrome

    Thomas syndrome by Ishikiriyama, S

    Published in Ryoikibetsu shokogun shirizu (2001)
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  14. 14
    Tibial aplasia/hypoplasia

    Tibial aplasia/hypoplasia by Ishikiriyama, S

    Published in Ryoikibetsu shokogun shirizu (2001)
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  15. 15
    Thoracopelvic dysostosis, thoracolaryngopelvic dysplasia, Barnes syndrome

    Thoracopelvic dysostosis, thoracolaryngopelvic dysplasia, Barnes syndrome by Ishikiriyama, S

    Published in Ryoikibetsu shokogun shirizu (2001)
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  16. 16
    Dwarfism-dysmorphic facies-retardation, Pitt type, Pitt-Rogers-Danks syndrome, Wolf-Hirschhorn syndrome, 4p-syndrome

    Dwarfism-dysmorphic facies-retardation, Pitt type, Pitt-Rogers-Danks syndrome, Wolf-Hirschhorn syndrome, 4p-syndrome by Ishikiriyama, S

    Published in Ryoikibetsu shokogun shirizu (2001)
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  17. 17
    Waardenburg syndromes

    Waardenburg syndromes by Ishikiriyama, S

    Published in Ryoikibetsu shokogun shirizu (2001)
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  18. 18
    Contractures-muscle atrophy-oculomotor apraxia

    Contractures-muscle atrophy-oculomotor apraxia by Ishikiriyama, S

    Published in Ryoikibetsu shokogun shirizu (2001)
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  19. 19
    Corpus callosum agenesis

    Corpus callosum agenesis by Ishikiriyama, S

    Published in Ryoikibetsu shokogun shirizu (2001)
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  20. 20
    Clouston syndrome, hydrotic ectodermal dysplasia

    Clouston syndrome, hydrotic ectodermal dysplasia by Ishikiriyama, S

    Published in Ryoikibetsu shokogun shirizu (2000)
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