检索结果 - R M Winter

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  1. 1
    Saethre-Chotzen syndrome.

    Saethre-Chotzen syndrome. 由 William Reardon, R M Winter

    出版 1994
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  2. 2
    Disorganisation: a model for 'early amnion rupture'?

    Disorganisation: a model for 'early amnion rupture'? 由 Dian Donnai, R M Winter

    出版 1989
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  3. 3
    Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.

    Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. 由 M Baraitser, R M Winter

    出版 1988
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  4. 4
    The London Dysmorphology Database.

    The London Dysmorphology Database. 由 R M Winter, M Baraitser

    出版 1987
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  5. 5
    A computerised data base for the diagnosis of rare dysmorphic syndromes.

    A computerised data base for the diagnosis of rare dysmorphic syndromes. 由 R M Winter, M Baraitser, Joel M. Douglas

    出版 1984
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  6. 6
    Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis.

    Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. 由 J Raine, R M Winter, A Davey, Susan Tucker

    出版 1989
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  7. 7
    Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?

    Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum? 由 L A Brueton, M J Dillon, R M Winter

    出版 1990
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  8. 8
    Confirmation of an association between RFLPs at the transforming growth factor-alpha locus and non-syndromic cleft lip and palate.

    Confirmation of an association between RFLPs at the transforming growth factor-alpha locus and non-syndromic cleft lip and palate. 由 Susan Holder, G M Vintiner, Bernadette Farren, S Malcolm, R M Winter

    出版 1992
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  9. 9
    The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p.

    The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. 由 L A Brueton, Lynne van Herwerden, Kokila Chotai, R M Winter

    出版 1992
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  10. 10
    Pulmonary agenesis as part of the VACTERL sequence.

    Pulmonary agenesis as part of the VACTERL sequence. 由 Steven Knowles, Ronald Thomas, R. H. Lindenbaum, Jean W. Keeling, R. M. Winter

    出版 1988
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  11. 11
    Telomeres: a diagnosis at the end of the chromosomes

    Telomeres: a diagnosis at the end of the chromosomes 由 L. B. A. De Vries, R M Winter, Albert Schinzel, Conny M.A. van Ravenswaaij‐Arts

    出版 2003
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  12. 12
    A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.

    A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. 由 David Wilkes, Paul Rutland, Louise J. Pulleyn, William Reardon, Celia Moss, J. Ellis, R M Winter, S Malcolm

    出版 1996
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  13. 13
    Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.

    Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. 由 A K Ryan, K. Bartlett, Peter T. Clayton, Simon Eaton, Luther R. Mills, Dian Donnai, R M Winter, John Burn

    出版 1998
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  14. 14
    Type 1 (insulin-dependent) diabetes and a highly variable locus close to the insulin gene on chromosome 11

    Type 1 (insulin-dependent) diabetes and a highly variable locus close to the insulin gene on chromosome 11 由 G. A. Hitman, A. C. Tarn, R M Winter, V. Drummond, Larry G. Williams, N I Jowett, G. F. Bottazzo, D. J. Galton

    出版 1985
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  15. 15
    Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy

    Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy 由 Vip Viprakasit, Richard J. Gibbons, Bernard C. Broughton, John Tolmie, David R. Brown, Peter Lunt, R M Winter, S. Marinoni, M Stefanini, L A Brueton, Alan R. Lehmann, Douglas R. Higgs

    出版 2001
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  16. 16
    Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.

    Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. 由 William Reardon, David Wilkes, Paul Rutland, Louise J. Pulleyn, S Malcolm, John Dean, Robert D. Evans, Barry M. Jones, Richard Hayward, C. Michael Hall, N C Nevin, M Baraister, R M Winter

    出版 1997
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  17. 17
    European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities

    European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities 由 Ilse Feenstra, Jiayi Fang, David A. Koolen, A. Siezen, C. R. Evans, R M Winter, Melissa Lees, Mariluce Riegel, Bert B.A. de Vries, Conny M.A. van Ravenswaaij, Albert Schinzel

    出版 2005
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  18. 18
    Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

    Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract 由 Frances R. Goodman, Stefan Mundlos, Yasuteru Muragaki, Dian Donnai, M. L. Giovannucci-Uzielli, Elisabetta Lapi, F. Majewski, Julie McGaughran, C McKeown, William Reardon, Joseph Upton, R M Winter, Bjørn R. Olsen, Peter Scambler

    出版 1997
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  19. 19
    Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

    Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. 由 A K Ryan, Judith A. Goodship, David I. Wilson, N. Philip, A. Lévy, H. Seidel, Simone Schuffenhauer, H Oechsler, B. H. Belohradsky, M Prieur, Alain Aurias, F. Lucy Raymond, Jill Clayton‐Smith, Eli Hatchwell, C McKeown, F. A. Beemer, Bruno Dallapiccola, Giuseppe Novelli, J A Hurst, Jaakko Ignatius, Andrew Green, R M Winter, L A Brueton, Karen Brøndum‐Nielsen, Peter Scambler

    出版 1997
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  20. 20
    Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene

    Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene 由 D.M. Hagan, Alison Ross, T Strachan, Sally Ann Lynch, Víctor L. Ruiz‐Pérez, Y.M. Wang, Peter Scambler, Emily Jane Custard, William Reardon, Syahzuwan Hassan, Maximilian Muenke, P. Nixon, Charalambos Papapetrou, R M Winter, Y. Edwards, K. Morrison, Margaret Barrow, M.P. Cordier-Alex, Patrícia Correia, Patricia Galvin‐Parton, Sharon P. Gaskill, K.J. Gaskin, S. Garcia-Minaur, Rani Gereige, Richard Hayward, Tessa Homfray, C McKeown, Victoria Murday, H Plauchu, Nora Shannon, Lewis Spitz, Susan Lindsay

    出版 2000
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