المؤلفون: Marine Pesson, Alain Volant, Arnaud Uguen, Kilian Trillet, Pierre De La Grange, Marc Aubry, Mélanie Daoulas, Michel Robaszkiewicz, Gérald Le Gac, Alain Morel, Brigitte Simon, Laurent Corcos

المصدر: PLoS ONE, Vol 9, Iss 2, p e87761 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3916340?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/8f50b73c226e4fc68e35d062d0eafe33

المؤلفون: Séverine Bacrot, Jean-Pierre Salles, Brigitte Simon-Bouy, Brian Sperelakis-Beedham, Etienne Mornet, Andreas Zankl, Mihelaiti Guberto, Agnès Taillandier, Valérie Porquet-Bordes, Estelle Colin, Deborah Wenkert, Anya Rothenbuhler, Christine Muti, Christelle Domingues

المصدر: Molecular Genetics and Metabolism. 132:198-203

مصطلحات موضوعية: Male, 0301 basic medicine, Endocrinology, Diabetes and Metabolism, Genetic counseling, Hypophosphatasia, Context (language use), 030105 genetics & heredity, Bioinformatics, Biochemistry, 03 medical and health sciences, Fetus, 0302 clinical medicine, Endocrinology, Pregnancy, Prenatal Diagnosis, Genetics, Humans, Medicine, Genetic Testing, Molecular Biology, Alleles, Genetic Association Studies, Genetic testing, medicine.diagnostic_test, business.industry, ALPL, Alkaline Phosphatase, medicine.disease, In utero, Mutation, Female, business, Tissue-nonspecific Alkaline Phosphatase, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62ebb2894269ee88a01d544267448671
https://doi.org/10.1016/j.ymgme.2021.01.009

المؤلفون: Christine Muti, Nathalie Rousseau, Etienne Mornet, Mihelaiti Guberto, Carole Charle, Fabienne Wallon, Christelle Domingues, Emmanuelle Benaloun, Brigitte Simon-Bouy, Agnès Taillandier, Annika Dufour, Nicole Lavaud

المصدر: Eur J Hum Genet

مصطلحات موضوعية: Nosology, Heterozygote, Adolescent, Genotype, Hypophosphatasia, Biology, Article, Cohort Studies, 03 medical and health sciences, Pregnancy, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Allele, Child, Alleles, Genetic Association Studies, Genetics (clinical), Dominance (genetics), 0303 health sciences, 030305 genetics & heredity, Infant, ALPL, Alkaline Phosphatase, medicine.disease, Phenotype, Child, Preschool, Mutation, Female, Haploinsufficiency, Founder effect

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5c5bfebd9d8cec7d6eff7ec72db59ef
https://doi.org/10.1038/s41431-020-00732-6

المؤلفون: Etienne Mornet, Brigitte Simon-Bouy, Agnès Taillandier, Mihelaiti Guberto

المصدر: Revue du Rhumatisme Monographies. 86:8-13

مصطلحات موضوعية: 030203 arthritis & rheumatology, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, 030212 general & internal medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3b54e183112364cd00167c592bf6f102
https://doi.org/10.1016/j.monrhu.2018.09.001

المؤلفون: Catherine Le Jossic-Corcos, Mathieu Hatt, Bogdan Badic, Brigitte Simon, Dimitris Visvikis, Laurent Corcos, Stéphanie Durand

المساهمون: PEIRENE (PEIRENE), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)

المصدر: Scientific Reports
Scientific Reports, Nature Publishing Group, 2019, 9 (1), ⟨10.1038/s41598-019-46286-6⟩
Scientific Reports, Vol 9, Iss 1, Pp 1-7 (2019)

مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Colorectal cancer, [SDV]Life Sciences [q-bio], Radiogenomics, lcsh:Medicine, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Medicine, Progression-free survival, Stage (cooking), lcsh:Science, ComputingMilieux_MISCELLANEOUS, Regulation of gene expression, Multidisciplinary, business.industry, Proportional hazards model, lcsh:R, Retrospective cohort study, medicine.disease, 3. Good health, INHBB, 030104 developmental biology, lcsh:Q, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b5cf56ab6e34642cbbbb2a5916ef4ac
https://hal.inrae.fr/hal-03164617

المؤلفون: Bogdan, Badic, Stéphanie, Durand, Flaria, El Khoury, Pierre, De La Grange, David, Gentien, Brigitte, Simon, Catherine, Le Jossic-Corcos, Laurent, Corcos

المصدر: Am J Transl Res

مصطلحات موضوعية: Original Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::19918c998720e4f9e6fbb49179d6c165
https://pubmed.ncbi.nlm.nih.gov/33042459

المؤلفون: Chantal Missirian, Sylvie Jaillard, Valérie Malan, Marianne Till, Paul Kuentz, Claire Beneteau, Brigitte Simon-Bouy, Marguerite Hureaux, François Vialard, Nathalie Marle, Nicolas Gruchy, Bérénice Hervé, Laurent Salomon, Morgane Plutino, Fabienne Prieur, Lucie Tosca, Caroline Rooryck, Céline Dupont, Charles Coutton, Caroline Schluth-Bolard, Sarah Guterman, Mylène Valduga, Damien Sanlaville, Sylvie Redon, Jacques Puechberty

المساهمون: CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Service de gynécologie et obstétrique [CHI Poissy-Saint Germain], CHI Poissy-Saint-Germain, Gamètes, implantation, gestation (GIG), centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy], Hospices Civils de Lyon (HCL), CHU Pontchaillou [Rennes], Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Centre Hospitalier Universitaire de Nancy (CHU Nancy), Laboratoire de Génétique Chromosomique [CHU de Grenoble], CHU Grenoble, Pôle Couple-Enfant, Département de Génétique et Procréation, Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Centre Hospitalier Versailles, 78000 Le Chesnay, France, parent, Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), CHU Bordeaux [Bordeaux], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Laboratoire de Génétique Chromosomique et Moléculaire [CHU Dijon], Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre Hospitalier Universitaire de Nice (CHU Nice), AP-HP - Hôpital Antoine Béclère [Clamart], Hôpital Robert Debré Paris, Hôpital Robert Debré, CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université Sorbonne Paris Cité (USPC)

المصدر: Prenatal Diagnosis
Prenatal Diagnosis, Wiley, 2019, 39 (6), pp.464-470. ⟨10.1002/pd.5449⟩

مصطلحات موضوعية: 0301 basic medicine, Adult, Heart Defects, Congenital, medicine.medical_specialty, Microarray, DNA Copy Number Variations, Prenatal diagnosis, 030105 genetics & heredity, ULTRASOUND FINDINGS, FREQUENCY, Chromosomes, 03 medical and health sciences, 0302 clinical medicine, Fetus, Pregnancy, Internal medicine, Prenatal Diagnosis, Alagille syndrome, medicine, Humans, Copy-number variation, Genetic Testing, PRENATAL-DIAGNOSIS, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Kleefstra Syndrome, Retrospective Studies, Chromosome Aberrations, Comparative Genomic Hybridization, 030219 obstetrics & reproductive medicine, business.industry, ABNORMALITIES, Obstetrics and Gynecology, Chromosome, Karyotype, [SDV.BDLR]Life Sciences [q-bio]/Reproductive Biology, Syndrome, medicine.disease, Microarray Analysis, 3. Good health, COPY NUMBER, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Karyotyping, Female, France, business, HYBRIDIZATION

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8decd4270286b823269f105dcfe129f6
https://hal.inrae.fr/hal-03179998

المؤلفون: Brigitte Simon-cochet

المساهمون: Bureau d'études pour les langues et les cultures

المصدر: Migrants formation 35-36(1):18-19

URL الوصول: https://www.persee.fr/doc/diver_0335-0894_1979_num_35_1_5824

المؤلفون: Brigitte Simon-Hettich, Joan Tell, Jürg Oliver Straub, Vincent J. D'Aco, Paul F. Robinson, Stewart F. Owen, Daniel J. Caldwell, Todd Davidson, Richard Murray-Smith, Kelly Kappler

المصدر: Chemosphere. 216

مصطلحات موضوعية: Environmental Engineering, Health, Toxicology and Mutagenesis, 0208 environmental biotechnology, 02 engineering and technology, 010501 environmental sciences, 01 natural sciences, Risk Assessment, Standard Risk, medicine, Environmental Chemistry, Animals, Humans, Hypoglycemic Agents, Predicted no-effect concentration, Significant risk, 0105 earth and related environmental sciences, Environmental risk assessment, Toxicity data, Public Health, Environmental and Occupational Health, Fishes, General Medicine, General Chemistry, Metformin Hydrochloride, Pollution, Metformin, United States, 020801 environmental engineering, Europe, Biodegradation, Environmental, Environmental chemistry, Environmental science, Risk assessment, Water Pollutants, Chemical, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79f2bf303b5cdfbe76324bdb2f639ef3
https://pubmed.ncbi.nlm.nih.gov/30385066

المؤلفون: Joan Tell, Paul F. Robinson, Vincent J. D'Aco, Jürg Oliver Straub, Daniel J. Caldwell, Kelly Kappler, Todd Davidson, Brigitte Simon-Hettich

المصدر: Chemosphere. 216

مصطلحات موضوعية: Environmental Engineering, Health, Toxicology and Mutagenesis, 0208 environmental biotechnology, Bioconcentration, 02 engineering and technology, 010501 environmental sciences, 01 natural sciences, Mineralization (biology), Risk Assessment, Aquatic plant, Environmental Chemistry, Animals, Humans, Hypoglycemic Agents, 0105 earth and related environmental sciences, Chemistry, Aquatic ecosystem, Public Health, Environmental and Occupational Health, General Medicine, General Chemistry, Biodegradation, Pollution, Metformin, 020801 environmental engineering, Transformation (genetics), Biodegradation, Environmental, Bioaccumulation, Environmental chemistry, Sewage treatment, Cimetidine, Water Pollutants, Chemical

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f54a2135df3ce0120809ff3e42499b29
https://pubmed.ncbi.nlm.nih.gov/30449313