Որոնման արդյունքները - M. Goossens
- Ցուցադրվում են 1 - 18 արդյունքները 18
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Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein. Florence Dastot, Marie‐Laure Sobrier, Philippe Duquesnoy, Bénédicte Duriez, M Goossens, Serge Amselem
Հրապարակվել է 1996Artigo -
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Triplicated alpha-globin loci in humans. M. Goossens, A M Dozy, Stephen H. Embury, Z Zachariades, M. G. Hadjiminas, G Stamatoyannopoulos, Y Kan
Հրապարակվել է 1980Artigo -
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Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression. Stany Chrétien, Anne Dubart‐Kupperschmitt, D Beaupain, Natacha Raich, Bernard Grandchamp, Jean‐Philippe Rosa, M. Goossens, Paul‐Henri Roméo
Հրապարակվել է 1988Artigo -
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Mutation of the Sry-related <i>Sox10</i> gene in <i>Dominant megacolon</i> , a mouse model for human Hirschsprung disease Beate Herbarth, Véronique Pingault, Nadège Bondurand, Kirsten Kuhlbrodt, Irm Hermans‐Borgmeyer, Aldamaria Puliti, N Lemort, M. Goossens, Michael Wegner
Հրապարակվել է 1998Artigo -
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Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease V. Cacheux, Florence Dastot‐Le Moal, H Kääriäinen, Nadège Bondurand, Risto Rintala, Brigitte Boissier, Megan J. Wilson, David Mowat, M. Goossens
Հրապարակվել է 2001Artigo -
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The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene J Pattinson, DS Millar, John H. McVey, CB Grundy, Kerstin Wieland, R. S. Mibashan, U. Martinowitz, Kian Cheng Tan-Un, Michel Vidaud, M. Goossens
Հրապարակվել է 1990Artigo -
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Haemophilia B: database of point mutations and short additions and deletions--eighth edition 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
Հրապարակվել է 1998Artigo -
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IL-4 Is a Potent Modulator of Ion Transport in the Human Bronchial Epithelium In Vitro 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
Հրապարակվել է 2002Artigo -
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Haemophilia B: database of point mutations and short additions and deletions, 7th edition 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
Հրապարակվել է 1997Artigo -
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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... 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
Հրապարակվել է 1998Artigo -
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Haemophilia B: database of point mutations and short additions and deletions--second edition 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
Հրապարակվել է 1991Artigo -
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Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness 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
Հրապարակվել է 2015Artigo -
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The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening 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
Հրապարակվել է 2009Artigo
Որոնման գործիքներ:
Առնչվող խորագիր
Biology
Gene
Genetics
Molecular biology
Mutation
Biochemistry
Medicine
Enzyme
Internal medicine
Phenotype
Point mutation
Cystic fibrosis
Cystic fibrosis transmembrane conductance regulator
Exon
Frameshift mutation
Heme
Porphobilinogen deaminase
Allele
Alternative splicing
Cell biology
Complementary DNA
Computer science
Disease
Endocrinology
Environmental health
Gene expression
Locus (genetics)
Messenger RNA
Molecular cloning
Nucleic acid sequence