檢索結果 - M. Goossens

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  1. 1
    Stool characteristics of infants receiving short-chain galacto-oligosaccharides and long-chain fructo-oligosaccharides: A review

    Stool characteristics of infants receiving short-chain galacto-oligosaccharides and long-chain fructo-oligosaccharides: A review 由 Petra A.M.J. Scholtens, Dominique A M Goossens, Annamaria Staiano

    出版 2014
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  2. 2
    Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein.

    Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein. 由 Florence Dastot, Marie‐Laure Sobrier, Philippe Duquesnoy, Bénédicte Duriez, M Goossens, Serge Amselem

    出版 1996
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  3. 3
    Structure of the gene for human uroporphyrinogen decarboxylase

    Structure of the gene for human uroporphyrinogen decarboxylase 由 Marc Romana, Anne Dubart‐Kupperschmitt, D Beaupain, Claude Chabret, M. Goossens, Paul‐Henri Roméo

    出版 1987
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  4. 4
    Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase

    Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase 由 Natacha Raich, Paul‐Henri Roméo, Anne Dubart‐Kupperschmitt, A. Beaupain, Martine Cohen‐Solal, M. Goossens

    出版 1986
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  5. 5
    Triplicated alpha-globin loci in humans.

    Triplicated alpha-globin loci in humans. 由 M. Goossens, A M Dozy, Stephen H. Embury, Z Zachariades, M. G. Hadjiminas, G Stamatoyannopoulos, Y Kan

    出版 1980
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  6. 6
    Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression.

    Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression. 由 Stany Chrétien, Anne Dubart‐Kupperschmitt, D Beaupain, Natacha Raich, Bernard Grandchamp, Jean‐Philippe Rosa, M. Goossens, Paul‐Henri Roméo

    出版 1988
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  7. 7
    Mutation of the Sry-related <i>Sox10</i> gene in <i>Dominant megacolon</i> , a mouse model for human Hirschsprung disease

    Mutation of the Sry-related <i>Sox10</i> gene in <i>Dominant megacolon</i> , a mouse model for human Hirschsprung disease 由 Beate Herbarth, Véronique Pingault, Nadège Bondurand, Kirsten Kuhlbrodt, Irm Hermans‐Borgmeyer, Aldamaria Puliti, N Lemort, M. Goossens, Michael Wegner

    出版 1998
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  8. 8
    Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA.

    Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA. 由 Paul‐Henri Roméo, Natacha Raich, Anne Dubart‐Kupperschmitt, D Beaupain, Marsha Pryor, J P Kushner, Martine Cohen‐Solal, M. Goossens

    出版 1986
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  9. 9
    Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease

    Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease 由 V. Cacheux, Florence Dastot‐Le Moal, H Kääriäinen, Nadège Bondurand, Risto Rintala, Brigitte Boissier, Megan J. Wilson, David Mowat, M. Goossens

    出版 2001
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  10. 10
    Tissue-specific splicing mutation in acute intermittent porphyria.

    Tissue-specific splicing mutation in acute intermittent porphyria. 由 Bernard Grandchamp, C. Picat, Vincent Mignotte, J. H. P. Wilson, Kor Te Velde, L. A. Sandkuyl, Paul‐Henri Roméo, M. Goossens, Y Nordmann

    出版 1989
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  11. 11
    The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene

    The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene 由 J Pattinson, DS Millar, John H. McVey, CB Grundy, Kerstin Wieland, R. S. Mibashan, U. Martinowitz, Kian Cheng Tan-Un, Michel Vidaud, M. Goossens

    出版 1990
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  12. 12
    Haemophilia B: database of point mutations and short additions and deletions--eighth edition

    Haemophilia B: database of point mutations and short additions and deletions--eighth edition 由 F. Giannelli, P. M. Green, S. S. Sommer, Man‐Chiu Poon, Michael Ludwig, R. Schwaab, Pieter H. Reitsma, M. Goossens, Akira Yoshioka, M. S. Figueiredo, George G. Brownlee

    出版 1998
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  13. 13
    IL-4 Is a Potent Modulator of Ion Transport in the Human Bronchial Epithelium In Vitro

    IL-4 Is a Potent Modulator of Ion Transport in the Human Bronchial Epithelium In Vitro 由 Luis J. V. Galietta, Patrick Pagésy, Chiara Folli, Emanuela Caci, Leila Romio, Bruno Costes, Elena Nicolis, Giulio Cabrini, M. Goossens, Roberto Ravazzolo, Olga Zegarra‐Moran

    出版 2002
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  14. 14
    Haemophilia B: database of point mutations and short additions and deletions, 7th edition

    Haemophilia B: database of point mutations and short additions and deletions, 7th edition 由 F. Giannelli, P. M. Green, S. S. Sommer, Man‐Chiu Poon, Michael Ludwig, R. Schwaab, Pieter H. Reitsma, M. Goossens, Akira Yoshioka, M. S. Figueiredo, G. G. Brownlee

    出版 1997
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  15. 15
    Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.

    Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutati... 由 Harry Cuppens, Wen‐chang Lin, Martine Jaspers, Bruno Costes, H Teng, Anne Vankeerberghen, Mark Jorissen, G. Droogmans, Ingrid Reynaert, M. Goossens, Bernd Nilius, J.-J. Cassiman

    出版 1998
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  16. 16
    Haemophilia B: database of point mutations and short additions and deletions--second edition

    Haemophilia B: database of point mutations and short additions and deletions--second edition 由 F. Giannelli, P.M. Green, Katherine A. High, Stefanie Sommer, D Lillicrap, Michael Ludwig, K. Olek, Pieter H. Reitsma, M. Goossens, Akira Yoshioka, G. G. Brownlee

    出版 1991
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  17. 17
    Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness

    Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness 由 Thibaud Damy, Bruno Costes, Albert Hagège, Erwan Donal, Jean‐Christophe Eicher, Michel Slama, Aziz Guellich, Stéphane Rappeneau, Jean-Pierre Gueffet, Damien Logeart, Violaine Planté‐Bordeneuve, Hélène Bouvaist, Olivier Huttin, Geneviève Mulak, Jean‐Luc Dubois‐Randé, M Goossens, Florence Canouï‐Poitrine, Joel N. Buxbaum

    出版 2015
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  18. 18
    The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

    The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening 由 Christel Thauvin‐Robinet, À. Munck, Frédéric Huet, Emmanuelle Génin, Gil Bellis, Élodie Gautier, M-P Audrezet, Claude Férec, G. Lalau, M. des Georges, M. Claustres, Thierry Bienvenu, Bénédicte Gérard, Pierre Boisseau, Faïza Cabet-Bey, D Feldmann, Christine Clavel, Éric Bieth, A. Iron, Brigitte Simon‐Bouy, C Costa, R.A. Medina López, Julie Leclerc, D. Hubert, R. Nové-Josserand, Isabelle Sermet‐Gaudelus, G. Rault, J Flori, Sabine Léroy, Nathalie Wizla, G. Bellon, A. Haloun, S. Bui, G. Dacremont, Harriet Corvol, Albrecht M. Clement, Elise Houssin, Christine Binquet, Claire Bonithon‐Kopp, C. Alberti-Boulmé, Michael A. Morris, Laurence Faivre, M. Goossens, M. Roussey

    出版 2009
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