المؤلفون: Anna Pelet, Tania Attié-Bitach, R. Touraine, Stylianos E. Antonarakis, Jeanne Amiel, Stanislas Lyonnet, PL Beales, Nicholas Katsanis, Delphine Trochet, Josué Feingold, Mathieu Clément-Ziza, Michel Goossens, F. Dastot-Le Moal, L. de Pontual, Jean-Louis Blouin, Hélène Dollfus, Arnold Munnich

المصدر: Human Mutation, Vol. 28, No 8 (2007) pp. 790-796

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Down syndrome, Genotype, Hirschsprung Disease/ genetics, Penetrance, Locus (genetics), Biology, Bioinformatics, Gene Frequency, Genetics, medicine, Humans, Hirschsprung Disease, Allele, Allele frequency, Alleles, Genetics (clinical), ddc:616, Proto-Oncogene Proteins c-ret, Epistasis, Genetic, Syndrome, medicine.disease, Major gene, Female, Proto-Oncogene Proteins c-ret/ genetics, Trisomy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86fc29de40061aa7932232e6b8d3a0d5
https://doi.org/10.1002/humu.20517

المؤلفون: Sylvain Marchand-Adam, Christophe Béroud, Huguette Lioté, Nicolas Leulliot, Christelle Ménard, Nadia Nathan, Aline Frazier, P. Richette, Benoit Wallaert, J. Sibilia, Patrick Revy, Martin Soubrier, Steven Gazal, Bruno Crestani, Sébastien Ottaviani, Jean-Pierre Desvignes, Hilario Nunes, S. Amselem, Y. Allanore, Dominique Valeyre, N. Saidenberg, Aurélien Justet, Gabriel Thabut, Annick Clement, Vincent Cottin, Olivier Sand, Christophe Richez, P.A. Juge, Philippe Froguel, Catherine Boileau, Isabelle Callebaut, R.M. Flipo, T. Schaeverbeke, Amélie Bonnefond, Marie-Christophe Boissier, Marie-Pierre Debray, Baptiste Coustet, Philippe Dieudé, F. Dastot Le Moal, Caroline Kannengiesser, Lidwine Wemeau-Stervinou, Raphael Borie, Claire Dromer, David Salgado

المصدر: Revue du Rhumatisme. 83:A91-A92

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Rheumatology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75a430986428a7d6506ce88aceadef0d
https://doi.org/10.1016/s1169-8330(16)30345-3

المؤلفون: F. Dastot-Le Moal, Serge Amselem, Jean-Pierre Siffroi, C Soleyan, Capucine Hyon, Sandra Chantot-Bastaraud, F. Frade, Nathalie Collot, Georges Audry, Matthieu Peycelon, Christine Grapin-Dagorno, Marie Legendre

المصدر: Progrès en Urologie. 22:758

مصطلحات موضوعية: business.industry, Urology, Medicine, business, Molecular biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::713a1fe6b7869a06e488e68431d186d4
https://doi.org/10.1016/j.purol.2012.08.042

المؤلفون: Brigitte Boissier, J Martin, Michel Goossens, V Delattre, Emmanuelle Girodon, F Dastot-Le Moal, Florence Niel, B Costes

المصدر: Journal of Medical Genetics. 41:e118-e118

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Time Factors, Adolescent, Cystic Fibrosis, DNA Mutational Analysis, Cystic Fibrosis Transmembrane Conductance Regulator, Genetic Counseling, Biology, medicine.disease_cause, Polymerase Chain Reaction, Cystic fibrosis, Gene Duplication, Molecular genetics, Gene duplication, Genetics, medicine, Humans, Allele, Child, Alleles, Genetics (clinical), Mutation, Point mutation, Infant, Heterozygote advantage, medicine.disease, Molecular biology, Cystic fibrosis transmembrane conductance regulator, biology.protein, Female, Online Mutation Report, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::564704623027ff963eb943903189af20
https://doi.org/10.1136/jmg.2004.022400