Rezultati - R M Winter

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  1. 1
    Saethre-Chotzen syndrome.

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

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

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

    Izdano 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. od M Baraitser, R M Winter

    Izdano 1988
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  4. 4
    The London Dysmorphology Database.

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

    Izdano 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. od R M Winter, M Baraitser, Joel M. Douglas

    Izdano 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. od J Raine, R M Winter, A Davey, Susan Tucker

    Izdano 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? od L A Brueton, M J Dillon, R M Winter

    Izdano 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. od Susan Holder, G M Vintiner, Bernadette Farren, S Malcolm, R M Winter

    Izdano 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. od L A Brueton, Lynne van Herwerden, Kokila Chotai, R M Winter

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

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

    Izdano 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 od L. B. A. De Vries, R M Winter, Albert Schinzel, Conny M.A. van Ravenswaaij‐Arts

    Izdano 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. od David Wilkes, Paul Rutland, Louise J. Pulleyn, William Reardon, Celia Moss, J. Ellis, R M Winter, S Malcolm

    Izdano 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. od A K Ryan, K. Bartlett, Peter T. Clayton, Simon Eaton, Luther R. Mills, Dian Donnai, R M Winter, John Burn

    Izdano 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 od G. A. Hitman, A. C. Tarn, R M Winter, V. Drummond, Larry G. Williams, N I Jowett, G. F. Bottazzo, D. J. Galton

    Izdano 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 od 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

    Izdano 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. od 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

    Izdano 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 od 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

    Izdano 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 od 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

    Izdano 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. od 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

    Izdano 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 od 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

    Izdano 2000
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