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1دورية أكاديمية
المؤلفون: Agnès Collet, Julien Tarabeux, Elodie Girard, Catherine Dubois DEnghien, Lisa Golmard, Vivien Deshaies, Alban Lermine, Anthony Laugé, Virginie Moncoutier, Cédrick Lefol, Florence Copigny, Catherine Dehainault, Henrique Tenreiro, Christophe Guy, Khadija Abidallah, Catherine Barbaroux, Etienne Rouleau, Nicolas Servant, Antoine De Pauw, Dominique Stoppa-Lyonnet, Claude Houdayer
المصدر: AIMS Genetics, Vol 2, Iss 4, Pp 263-280 (2015)
مصطلحات موضوعية: HaloPlex, cancer, predisposition, genetic diagnosis, next generation sequencing, gene panel, Genetics, QH426-470
وصف الملف: electronic resource
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2
المؤلفون: Claudia Djambas Khayat, Stephany El-Hayek, Jack Koueik, Roula A Farah, Tony Yammine, Pratibha Nair, Dominique Stoppa-Lyonnet, Catherine Dubois-d’Enghien, André Mégarbané, Eliane Chouery, Agnès Collet, Maud Blanluet, Rima Korban, Hassan Khalifeh
المصدر: Journal of pediatric hematology/oncology. 43(5)
مصطلحات موضوعية: Adult, Male, Adolescent, Prenatal diagnosis, Disease, Bioinformatics, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Fanconi anemia, FANCG, medicine, Humans, Lebanon, Child, Fanconi Anemia Complementation Group G Protein, Gene, Fanconi Anemia Complementation Group A Protein, business.industry, Incidence (epidemiology), Hematology, medicine.disease, FANCA, Fanconi Anemia, Oncology, 030220 oncology & carcinogenesis, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, Female, business, Inherited bone marrow failure syndrome, 030215 immunology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d9c671084942b9409c31bf666f716fb
https://pubmed.ncbi.nlm.nih.gov/32947577 -
3
المؤلفون: Dorine Bellanger, Catherine Dubois d'Enghien, Lenha Mobuchon, Jean-Michel Pedespan, Alice Fiévet, Dominique Stoppa-Lyonnet, Béatrice Parfait, Lydie Burglen, Nathalie Auger, Alexandra Afenjar, Fabienne Giuliano, Agnès Collet, Marc-Henri Stern, Guillaume Rieunier, Stéphanie Valence
المصدر: Human mutation. 40(10)
مصطلحات موضوعية: Genome instability, Ataxia, RNA Splicing, Ataxia Telangiectasia Mutated Proteins, Biology, Ataxia Telangiectasia, Cell Line, Tumor, Genetics, medicine, Humans, splice, Genetic Predisposition to Disease, Child, Genetics (clinical), Genetic Association Studies, MRE11 Homologue Protein, Gene Expression Profiling, Haplotype, Infant, Karyotype, Magnetic Resonance Imaging, enzymes and coenzymes (carbohydrates), Phenotype, Haplotypes, Mutation, S Phase Cell Cycle Checkpoints, Phosphorylation, Female, Disease Susceptibility, medicine.symptom, Homologous recombination, Transcriptome, Camptothecin, medicine.drug, Signal Transduction
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4
المؤلفون: Khadija Abidallah, Felipe Suarez, Emmanuelle Ginglinger, Bertrand Degos, Céline Bellesme, Jean‐Paul Carriere, Nizar Mahlaoui, Guillaume Rieunier, Dorine Bellanger, Patrick Calvas, Olivier Flabeau, Dominique Stoppa-Lyonnet, Christelle Rougeot, Diane Doummar, Noel Philippe, Nathalie Auger, Virginie Moncoutier, Michèle Mathieu-Dramard, Christine Ioos, Anna Castrioto, Marie Hully, Béatrice Parfait, François Tison, Agnès Collet, Marie-Christine Nougues, Catherine Dubois d'Enghien, Alice Masurel, Karine Dahan, Thilo Dörk, Hélène Antoine-Poirel, Cecilia Altuzarra, François Demeocq, Alice Fiévet, Pierre Bordigoni, Nathalie Aladjidi, Claire Ewenczyk, Aurélie Siri, Karine Nguyen, Mathieu Anheim, Fabienne Prieur, Marc-Henri Stern, Caroline Bourjault, Fabien Touzot, Julia Sophie, Fanny Couderc, Agathe Roubertie
المصدر: Human mutation. 40(10)
مصطلحات موضوعية: Genotype, DNA Mutational Analysis, Disease, Ataxia Telangiectasia Mutated Proteins, Biology, medicine.disease_cause, Cell Line, 03 medical and health sciences, Ataxia Telangiectasia, Immune system, Genetics, medicine, Humans, splice, Genetic Predisposition to Disease, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Mutation, Kinase, 030305 genetics & heredity, Cell Cycle, Genetic Variation, Subcellular localization, medicine.disease, Phenotype, Alternative Splicing, Ataxia-telangiectasia
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5
المؤلفون: Anthony Laugé, Vivien Deshaies, Catherine Dubois d'Enghien, Lisa Golmard, Agnès Collet, Catherine Barbaroux, Claude Houdayer, Nicolas Servant, Virginie Moncoutier, Etienne Rouleau, Alban Lermine, Cédrick Lefol, Catherine Dehainault, Florence Copigny, Julien Tarabeux, Dominique Stoppa-Lyonnet, Henrique Tenreiro, Antoine De Pauw, Khadija Abidallah, Christophe Guy, Elodie Girard
المصدر: AIMS Genetics, Vol 2, Iss 4, Pp 263-280 (2015)
مصطلحات موضوعية: lcsh:QH426-470, Pseudogene, Biology, DNA sequencing, genetic diagnosis, 03 medical and health sciences, 0302 clinical medicine, gene panel, Gene panel, medicine, cancer, Indel, 030304 developmental biology, next generation sequencing, Genetics, 0303 health sciences, Point mutation, Cancer, General Medicine, medicine.disease, lcsh:Genetics, predisposition, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), HaloPlex, Genetic diagnosis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a12076f3d586dee6dfc953635d70a8d
https://doi.org/10.3934/genet.2015.4.263 -
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المؤلفون: V Guibert, Henrique Tenreiro, Dominique Stoppa-Lyonnet, Anthony Laugé, Stéphane Bézieau, Marion Gauthier-Villars, Adrien Briaux, A. De Pauw, Khadija Abidallah, Etienne Rouleau, Bruno Buecher, Claude Houdayer, Cédrick Lefol, Lisa Golmard, Capucine Delnatte, Paul Gesta, Virginie Moncoutier, Julien Tarabeux, Agnès Collet, Sandrine M. Caputo, Catherine Barbaroux, G Amorim, F Copigny, M Giraudeau, Christophe Guy, O Ingster, M-H Stern
المصدر: Oncogene. 35:1324-1327
مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, endocrine system diseases, Genetic counseling, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, Biology, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, BRCA2 Mutation, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, skin and connective tissue diseases, Molecular Biology, Gene, Ovarian Neoplasms, De novo mutation, Middle Aged, medicine.disease, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Mutation (genetic algorithm), Female, Ovarian cancer
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المؤلفون: Jérôme Chatelin, Mylène Valduga, Philippe Jonveaux, Agnès Collet, Lila Allou, Laetitia Lambert, Céline Bonnet, Georges Weryha, Razvan Nicolaie Gospodaru, M. Agopiantz
المصدر: Annales de biologie clinique. 72:371-377
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Deep vein, Aneuploidy, Deafness, Blindness, XXXY syndrome, Klinefelter Syndrome, Hypergonadotropic hypogonadism, Intellectual Disability, medicine, Humans, Hypertelorism, business.industry, Hypogonadism, Eyelids, Facies, General Medicine, Middle Aged, medicine.disease, medicine.anatomical_structure, Palpebral fissure, Microorchidism, 49, XXXXY syndrome, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f505c7b39d0cae136c7adad5900cd83e
https://doi.org/10.1684/abc.2014.0954 -
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المؤلفون: P. Monmaur, Guy Lallement, Dominique Baubichon, Agnès Collet, Irmine Pernot-Marino, M. Denoyer, Guy Blanchet
المصدر: Neuroscience Letters. 139:104-107
مصطلحات موضوعية: Male, medicine.medical_specialty, Soman, Glutamic Acid, Hippocampus, Biology, Hippocampal formation, chemistry.chemical_compound, Glutamates, Seizures, Internal medicine, Electrochemistry, medicine, Extracellular, Animals, Receptors, Cholinergic, Rats, Wistar, Chromatography, High Pressure Liquid, General Neuroscience, Glutamate receptor, Acetylcholinesterase, Acetylcholine, Rats, Atropine, Spectrometry, Fluorescence, Endocrinology, chemistry, Extracellular Space, medicine.drug
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المؤلفون: Guy Lallement, Agnès Collet, Frédéric Pont
المصدر: Neuroscience letters. 184(1)
مصطلحات موضوعية: Male, medicine.medical_specialty, Microdialysis, Kainic acid, Biology, Hippocampal formation, Blood–brain barrier, Hippocampus, Permeability, Epilepsy, chemistry.chemical_compound, Seizures, Internal medicine, Convulsion, medicine, Animals, Amino Acids, Rats, Wistar, Kainic Acid, General Neuroscience, Glutamate receptor, medicine.disease, Rats, Disease Models, Animal, Endocrinology, medicine.anatomical_structure, chemistry, Blood-Brain Barrier, medicine.symptom, Neuroscience, Blood sampling
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المؤلفون: Guy Lallement, Guy Blanchet, Denis Sereno, Agnès Collet, M. Denoyer, Irmine Pernot-Marino
المصدر: Brain research. 592(1-2)
مصطلحات موضوعية: Atropine, Male, medicine.medical_specialty, Central nervous system, Soman, Amygdala, c-Fos, Injections, chemistry.chemical_compound, Seizures, Internal medicine, Convulsion, medicine, Animals, Receptors, Cholinergic, Tissue Distribution, Rats, Wistar, Molecular Biology, Neurons, biology, Behavior, Animal, Histocytochemistry, General Neuroscience, Rats, medicine.anatomical_structure, Endocrinology, nervous system, chemistry, Hypothalamus, biology.protein, Fascia dentata, Septum Pellucidum, Neurology (clinical), medicine.symptom, Neuroscience, Proto-Oncogene Proteins c-fos, Developmental Biology, medicine.drug