المؤلفون: Neus Solé-Morata, Patricia Villaescusa, Carla García-Fernández, Neus Font-Porterias, María José Illescas, Laura Valverde, Francesca Tassi, Silvia Ghirotto, Claude Férec, Karen Rouault, Susana Jiménez-Moreno, Begoña Martínez-Jarreta, Maria Fátima Pinheiro, María T. Zarrabeitia, Ángel Carracedo, Marian M. de Pancorbo, Francesc Calafell

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-13 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/7a8ef1a23c124a93b5c37fcc00af1c62

المؤلفون: Paul Guéguen, Karen Rouault, Jian-Min Chen, Odile Raguénès, Yann Fichou, Elisabeth Hardy, Eric Gobin, Brigitte Pan-Petesch, Mathieu Kerbiriou, Pascal Trouvé, Pascale Marcorelles, Jean-Francois Abgrall, Cédric Le Maréchal, Claude Férec

المصدر: PLoS ONE, Vol 8, Iss 9, p e74728 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3775762?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/156bd11a6ee24d9dbdc08f06b7285928

المؤلفون: Philippe Saliou, Gérald Le Gac, Anne-Yvonne Mercier, Brigitte Chanu, Paul Guéguen, Marie-Christine Mérour, Isabelle Gourlaouen, Sandrine Autret, Cédric Le Maréchal, Karen Rouault, Jean-Baptiste Nousbaum, Claude Férec, Virginie Scotet

المصدر: PLoS ONE, Vol 8, Iss 12, p e81128 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3855242?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/3696df7408e14e219065d8c0cc60737c

المؤلفون: Emmanuelle Masson, Maren Ewers, Sumit Paliwal, Kiyoshi Kume, Virginie Scotet, David N. Cooper, Vinciane Rebours, Louis Buscail, Karen Rouault, Amandine Abrantes, Lina Aguilera Munoz, Jérémie Albouys, Laurent Alric, Xavier Amiot, Isabelle Archambeaud, Solène Audiau, Laetitia Bastide, Julien Baudon, Guy Bellaiche, Serge Bellon, Valérie Bertrand, Karine Bideau, Kareen Billiemaz, Claire Billioud, Sabine Bonnefoy, Corinne Borderon, Barbara Bournet, Estelle Breton, Mathias Brugel, Guillaume Cadiot, Marine Camus, Marine Carpentier-Pourquier, Patrick Chamouard, Ulriikka Chaput, Jian-Min Chen, Franck Cholet, Dragos Marius Ciocan, Christine Clavel, Benoit Coffin, Laura Coimet-Berger, Simona Cosconea, Isabelle Creveaux, Adrian Culetto, Oussama Daboussi, Louis De Mestier, Thibault Degand, Christelle D'engremont, Bernard Denis, Solène Dermine, null Desgrippes, Augustin Drouet D'Aubigny, Raphaël Enaud, Alexandre Fabre, Claude Férec, Dany Gargot, Eve Gelsi, Elena Gentilcore, Rodica Gincul, Emmanuelle Ginglinger-Favre, Marc Giovannini, Cécile Gomercic, Hannah Gondran, Thomas Grainville, Philippe Grandval, Denis Grasset, Stéphane Grimaldi, Sylvie Grimbert, Hervé Hagege, Sophie Heissat, Olivia Hentic, Anne Herber-Mayne, Marc Hervouet, Solene Hoibian, Jérémie Jacques, Bénédicte Jais, Mehdi Kaassis, Stéphane Koch, Elodie Lacaze, Joël Lacroute, Thierry Lamireau, Lucie Laurent, Xavier Le Guillou, Marc Le Rhun, Sarah Leblanc, Philippe Levy, Astrid Lievre, Diane Lorenzo, Frédérique Maire, Kévin Marcel, Jacques Mauillon, Stéphanie Morgant, Driffa Moussata, Nelly Muller, Sophie Nambot, Bertrand Napoleon, Anne Olivier, Maël Pagenault, Anne-laure Pelletier, Olivier Pennec, Fabien Pinard, Mathieu Pioche, Bénédicte Prost, Lucille Queneherve, Noemi Reboux, Samia Rekik, Ghassan Riachi, Barbara Rohmer, Bertrand Roquelaure, Isabelle Rosa Hezode, Florian Rostain, Jean-Christophe Saurin, Laure Servais, Roxana Stan-Iuga, Clément Subtil, Jérémy Tanneche, Charles Texier, Lucie Thomassin, David Tougeron, Lucine Vuitton, Timothée Wallenhorst, Marc Wangerme, Hélène Zanaldi, Frank Zerbib, Seema Bhaskar, Kazuhiro Kikuta, G Venkat Rao, Shin Hamada, D Nageshwar Reddy, Atsushi Masamune, Giriraj Ratan Chandak, Heiko Witt

المصدر: Pancreatology. 23:48-56

مصطلحات موضوعية: Hepatology, Endocrinology, Diabetes and Metabolism, Gastroenterology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::448aebd86496497b807c2bb323215d76
https://doi.org/10.1016/j.pan.2022.11.013

المؤلفون: Richard H. van Jaarsveld, Jack Reilly, Marie-Claire Cornips, Michael A. Hadders, Emanuele Agolini, Priyanka Ahimaz, Kwame Anyane-Yeboa, Severine Audebert Bellanger, Ellen van Binsbergen, Marie-Jose van den Boogaard, Elise Brischoux-Boucher, Raymond C. Caylor, Andrea Ciolfi, Ton A.J. van Essen, Paolo Fontana, Saskia Hopman, Maria Iascone, Margaret M. Javier, Erik-Jan Kamsteeg, Jennifer Kerkhof, Jun Kido, Hyung-Goo Kim, Tjitske Kleefstra, Fortunato Lonardo, Abbe Lai, Dorit Lev, Michael A. Levy, M.E. Suzanne Lewis, Angie Lichty, Marcel M.A.M. Mannens, Naomichi Matsumoto, Idit Maya, Haley McConkey, Andre Megarbane, Vincent Michaud, Evelina Miele, Marcello Niceta, Antonio Novelli, Roberta Onesimo, Rolph Pfundt, Bernt Popp, Eloise Prijoles, Raissa Relator, Sylvia Redon, Dmitrijs Rots, Karen Rouault, Ken Saida, Jolanda Schieving, Marco Tartaglia, Romano Tenconi, Kevin Uguen, Nienke Verbeek, Christopher A. Walsh, Keren Yosovich, Christopher J. Yuskaitis, Giuseppe Zampino, Bekim Sadikovic, Mariëlle Alders, Renske Oegema

المساهمون: Human Genetics, ACS - Pulmonary hypertension & thrombosis, Amsterdam Reproduction & Development (AR&D), Human genetics

المصدر: Genetics in Medicine, 25, 1, pp. 49-62
van Jaarsveld, R H, Reilly, J, Cornips, M-C, Hadders, M A, Agolini, E, Ahimaz, P, Anyane-Yeboa, K, Bellanger, S A, van Binsbergen, E, van den Boogaard, M-J, Brischoux-Boucher, E, Caylor, R C, Ciolfi, A, van Essen, T A J, Fontana, P, Hopman, S, Iascone, M, Javier, M M, Kamsteeg, E-J, Kerkhof, J, Kido, J, Kim, H-G, Kleefstra, T, Lonardo, F, Lai, A, Lev, D, Levy, M A, Lewis, M E S, Lichty, A, Mannens, M M A M, Matsumoto, N, Maya, I, McConkey, H, Megarbane, A, Michaud, V, Miele, E, Niceta, M, Novelli, A, Onesimo, R, Pfundt, R, Popp, B, Prijoles, E, Relator, R, Redon, S, Rots, D, Rouault, K, Saida, K, Schieving, J, Tartaglia, M, Tenconi, R, Uguen, K, Verbeek, N, Walsh, C A, Yosovich, K, Yuskaitis, C J, Zampino, G, Sadikovic, B, Alders, M & Oegema, R 2023, ' Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature ', Genetics in Medicine, vol. 25, no. 1, pp. 49-62 . https://doi.org/10.1016/j.gim.2022.09.006
Genetics in medicine, 25(1), 49-62. Lippincott Williams and Wilkins
Genetics in Medicine, 25(1), 49-62. Lippincott Williams and Wilkins
Genetics in Medicine, 25, 49-62
Genetics in Medicine, 25(1), 49-62. Nature Publishing Group

مصطلحات موضوعية: MDEMs, All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], KDM2B, Methylation signatures, Neurodevelopmental disorders, Human Genetics, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Genetics (clinical), Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2e9527bbc3853240983032791841559
https://repository.ubn.ru.nl/handle/2066/290808

المؤلفون: Loïc Couloigner, Marc Planes, Chandran Ka, Séverine Audebert‐Bellanger, Sylvia Redon, Caroline Benech, Karen Rouault, Sebastien Küry, Sylviane Peudenier, Sandrine Autret, Isabelle Gourlaouen, Dominique Bonneau, Sylvie Odent, Stéphane Bézieau, Brigitte Gilbert‐Dussardier, Annick Toutain, Anne Boland, Jean‐François Deleuze, Cédric Le Marechal, Gérald Le Gac, Claude Ferec, Kevin Uguen

المساهمون: Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Institut du Thorax [Nantes], Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de Recherche en Génomique Humaine (CNRGH), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)

المصدر: Clinical Genetics
Clinical Genetics, 2023, 103 (3), pp.377-379. ⟨10.1111/cge.14270⟩

مصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ef1290aa9226cb2800508ba82ba6889
https://pubmed.ncbi.nlm.nih.gov/36444497

المؤلفون: Khaoula Ben-Farhat, Monia Khemiri, Zohra Fitouri, Sihem Barsaoui, Najla Mekki, Meriem Ben-Ali, Selim Abdelmoula, Mohamed-Neji Guediche, M. R. Barbouche, Samir Boukthir, Saber Hamami, Imen Ben-Mustapha, Amel Ben-Chehida, Jalel Chemli, Karen Rouault, Beya Larguèche

المساهمون: Université de Tunis El Manar (UTM), Laboratoire de Transmission, Contrôle et Immunobiologie des Infections - Laboratory of Transmission, Control and Immunobiology of Infection (LR11IPT02), Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Faculté de Médecine de Tunis, Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Département pédiatrique [Hôpital Fattouma Bourguiba - Monastir], CHU Fattouma Bourguiba [Monastir] (HFB), Department of Pediatrics [Tunis], Hôpital La Rabta [Tunis], Béchir Hamza Children's Hospital, Hôpital Universitaire Sahloul (CHU Sahloul)

المصدر: Journal of Clinical Immunology
Journal of Clinical Immunology, Springer Verlag, 2016, 36 (6), pp.547-554. ⟨10.1007/s10875-016-0299-9⟩

مصطلحات موضوعية: Male, 0301 basic medicine, Neutrophils, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, Granulomatous Disease, Chronic, medicine.disease_cause, Severity of Illness Index, Consanguinity, 0302 clinical medicine, Chronic granulomatous disease, MESH: Child, Immunology and Allergy, MESH: NADPH Oxidases/genetics, MESH: DNA Mutational Analysis, Child, MESH: Neutrophils/metabolism, MESH: Genetic Association Studies, Genetics, Mutation, MESH: Infant, Founder Effect, 3. Good health, Phenotype, Child, Preschool, 030220 oncology & carcinogenesis, Female, MESH: Tunisia, NCF2 gene, MESH: Alleles, MESH: Enzyme Activation, Tunisia, Immunology, Biology, MESH: Phenotype, 03 medical and health sciences, MESH: Genetic Predisposition to Disease, MESH: Severity of Illness Index, MESH: Founder Effect, medicine, Humans, Genetic Predisposition to Disease, Allele, Gene, Alleles, Genetic Association Studies, MESH: Consanguinity, MESH: Granulomatous Disease, Chronic/diagnosis, MESH: Humans, MESH: Granulomatous Disease, Chronic/genetics, MESH: Child, Preschool, Haplotype, Infant, NADPH Oxidases, MESH: Granulomatous Disease, Chronic/metabolism, MESH: Haplotypes, medicine.disease, MESH: Male, Enzyme Activation, 030104 developmental biology, Haplotypes, Genetic marker, MESH: Neutrophils/immunology, MESH: Mutation, MESH: NADPH Oxidases/metabolism, MESH: Female, Founder effect

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d93add6bc9843dc959ccce1265808deb
https://doi.org/10.1007/s10875-016-0299-9

المؤلفون: Jaime Algorta, Karen Rouault, Amparo M Gotor, Susana Jiménez, Niels Morling, Begoña Martínez Jarreta, Claude Férec, Ainara García, Maite Zarrabeitia, Patricia Villaescusa, Orla Hardiman, Marian M. de Pancorbo, Susana Catarino, Jill K. Olofsson, M.F. Pinheiro, Laura Valverde, Sergio Cardoso, María José Illescas

المصدر: European Journal of Human Genetics. 24:437-441

مصطلحات موضوعية: Male, 0301 basic medicine, geography, Chromosomes, Human, Y, geography.geographical_feature_category, Lineage (evolution), Restricted distribution, Biology, Spatial distribution, Polymorphism, Single Nucleotide, Article, Europe, 03 medical and health sciences, 030104 developmental biology, Peninsula, Phylogenetics, Evolutionary biology, Western europe, Genetics, Humans, Y-SNP, Phylogeny, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1dc6b13f3770439484e2bd5502d36df
https://doi.org/10.1038/ejhg.2015.114

المؤلفون: Najla Mekki, Mohamed Bejaoui, Mohamed-Ridha Barbouche, Meriem Ben-Ali, S. Hassayoun, Saayda Ben-Becher, Karen Rouault, Fethi Mellouli, Lamia Boughamoura, Imen Ben-Mustapha, Monia Khemiri, Leila Ben-Khemis, Leila Essaddam

المصدر: Molecular immunology. 90

مصطلحات موضوعية: 0301 basic medicine, Male, Glycosylation, Tunisia, Adolescent, Genetic counseling, Immunology, Prenatal diagnosis, Consanguinity, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Genetic Predisposition to Disease, Child, Molecular Biology, Gene, Genetics, Mutation, Haplotype, Homozygote, medicine.disease, Pedigree, 030104 developmental biology, Haplotypes, Phosphoglucomutase, Genetic marker, Child, Preschool, Female, Congenital disorder of glycosylation, 030215 immunology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::771471e0a2d926a86bb2b7f43af969e1
https://pubmed.ncbi.nlm.nih.gov/28704707

المؤلفون: Silvia Ghirotto, Claude Férec, Neus Font-Porterias, María T. Zarrabeitia, Susana Jiménez-Moreno, Begoña Martínez-Jarreta, Neus Solé-Morata, María José Illescas, Marian M. de Pancorbo, M.F. Pinheiro, Laura Valverde, Carla García-Fernández, Francesc Calafell, Patricia Villaescusa, Karen Rouault, Francesca Tassi, Angel Carracedo

المساهمون: Universidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría, Universidad de Cantabria

المصدر: Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
Sci Rep. 2017 Aug 4;7(1):7341
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Recercat. Dipósit de la Recerca de Catalunya
Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
Scientific Reports
Scientific Reports, Vol 7, Iss 1, Pp 1-13 (2017)
SCIENTIFIC REPORTS
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante

مصطلحات موضوعية: Male, 0301 basic medicine, Lineage (genetic), Celtic languages, Science, Population, Socio-culturale, 030105 genetics & heredity, Biology, Y chromosome, Polymorphism, Single Nucleotide, White People, Article, Haplogroup, 03 medical and health sciences, Gene Frequency, Cromosoma Y, Bronze Age, Haplogroup R1b (Y-DNA), Humans, 10. No inequality, education, Alleles, Phylogeny, Genetics, education.field_of_study, Chromosomes, Human, Y, Multidisciplinary, Biological anthropology Genetic variation, Genetic Variation, Genòmica, Genetics, Population, 030104 developmental biology, Haplotypes, Evolutionary biology, Medicine

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a21e760faa691beed0ff83b328e9cd63
https://hdl.handle.net/10347/22673