المؤلفون: Franz P. W. Radner, Slaheddine Marrakchi, Peter Kirchmeier, Gwang-Jin Kim, Florence Ribierre, Bourane Kamoun, Leila Abid, Michael Leipoldt, Hamida Turki, Werner Schempp, Roland Heilig, Mark Lathrop, Judith Fischer

المصدر: PLoS Genetics, Vol 9, Iss 6 (2013)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3758471; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/a4dfe7cb25674ce28820d9c2acb3da8b

المؤلفون: Franz P W Radner, Slaheddine Marrakchi, Peter Kirchmeier, Gwang-Jin Kim, Florence Ribierre, Bourane Kamoun, Leila Abid, Michael Leipoldt, Hamida Turki, Werner Schempp, Roland Heilig, Mark Lathrop, Judith Fischer

المصدر: PLoS Genetics, Vol 9, Iss 6, p e1003536 (2013)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3675029?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/eb205806975848f0bae15868d1c06749

المؤلفون: Marina C. Nocente, Anida Mesihovic Karamitsos, Emilie Drouineau, Waad Albawardi, Cécile Dulary, Florence Ribierre, Hélène Picaud, Olivier Alibert, Joël Acker, Jean-Christophe Aude, Nick Gilbert, Françoise Ochsenbein, Sophie Chantalat, Matthieu Gérard

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5563f1d687d0597593393ff6cecfcc34
https://doi.org/10.1101/2022.09.15.507958

المؤلفون: Maud de Dieuleveult, Kuangyu Yen, Isabelle Hmitou, Arnaud Depaux, Fayçal Boussouar, Daria Bou Dargham, Sylvie Jounier, Hélène Humbertclaude, Florence Ribierre, Céline Baulard, Nina P. Farrel

المصدر: Nature, Nature. 530(7588):113-116

الإتاحة: https://ideas.repec.org/a/nat/nature/v530y2016i7588d10.1038_nature16505.html

المؤلفون: Laure Ferry, Ivana Ivkovic, Florence Ribierre, Jean-François Deleuze, Giacomo Grillo, Sophie Chantalat, Capucine Picard, Guillaume Velasco, Claire Francastel, Nizar Touleimat

المساهمون: Centre épigénétique et destin cellulaire (EDC (UMR_7216)), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Informatique, Biologie Intégrative et Systèmes Complexes (IBISC), Université d'Évry-Val-d'Essonne (UEVE)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Institut de la Vision, Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Sanofi-Aventis, Génétique Humaine des Maladies Infectieuses (Inserm U980), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Biologie du Développement et Reproduction (BDR), Institut National de la Recherche Agronomique (INRA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Centre épigénétique et destin cellulaire (EDC), Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)

المصدر: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2018, 27 (14), pp.2409-2424. ⟨10.1093/hmg/ddy130⟩
Human Molecular Genetics, 2018, 27 (14), pp.2409-2424. ⟨10.1093/hmg/ddy130⟩

مصطلحات موضوعية: Male, 0301 basic medicine, Genotype, Heterochromatin, Neurogenesis, [SDV]Life Sciences [q-bio], DNMT3B, [SDV.CAN]Life Sciences [q-bio]/Cancer, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Biology, medicine.disease_cause, DNA methyltransferase, HELLS, 03 medical and health sciences, 0302 clinical medicine, [STAT.ML]Statistics [stat]/Machine Learning [stat.ML], Chromosomal Instability, Genetics, medicine, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, DNA (Cytosine-5-)-Methyltransferases, Molecular Biology, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Epigenomics, Mutation, [SDV.GEN]Life Sciences [q-bio]/Genetics, Genome, Human, DNA Helicases, Immunologic Deficiency Syndromes, Nuclear Proteins, General Medicine, DNA Methylation, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], 3. Good health, Repressor Proteins, [STAT]Statistics [stat], 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, DNA methylation, Female, Human genome, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7891259e8e3c27045fd0e3603b60dbbb
https://hal-cea.archives-ouvertes.fr/cea-01833124

المؤلفون: Nina Farrell, Marta Gut, Bongsoo Park, Sophie Chantalat, Fayçal Boussouar, Lucie Carrière, Arnaud Depaux, Soizick Berlivet, Hélène Humbertclaude, Isabelle Hmitou, Robert Olaso, Maud de Dieuleveult, Jean-Christophe Aude, Ivo Gut, Kuangyu Yen, Matthieu Gérard, Daria Bou Dargham, B. Franklin Pugh, Céline Keime, Céline Baulard, Michel Werner, Florence Ribierre, Sylvie Jounier, Jean-François Deleuze

المساهمون: Institut de Biologie et de Technologies de Saclay ( IBITECS ), Université Paris-Saclay-Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Institut de Biologie Intégrative de la Cellule ( I2BC ), Université Paris-Saclay-Centre National de la Recherche Scientifique ( CNRS ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Université Paris-Sud - Paris 11 ( UP11 ), Center for Eukaryotic Gene Regulation, PennState University [Pennsylvania] ( PSU ), Key Laboratory of Zebrafish Modeling and Drug Screening for Human Diseases, Southern Medical University, Guangzhou, INSERM U823, Institut Albert Bonniot, Centre National de Génotypage ( CNG ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Institut de Génétique et de Biologie Moléculaire et Cellulaire ( IGBMC ), Université de Strasbourg ( UNISTRA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Centre Nacional D'Anàlisi Genómica, Parc Cientific de Barcelona, Institut de Biologie et de Technologies de Saclay (IBITECS), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Pennsylvania State University (Penn State), Penn State System-Penn State System, Southern Medical University [Guangzhou], Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Nature
Nature, Nature Publishing Group, 2016, 530 (7588), pp.113-116. 〈10.1038/nature16505〉
Nature, Nature Publishing Group, 2016, 530 (7588), pp.113-116. ⟨10.1038/nature16505⟩
Nature, 2016, 530 (7588), pp.113-116. ⟨10.1038/nature16505⟩

مصطلحات موضوعية: 0301 basic medicine, [SDV]Life Sciences [q-bio], RNA polymerase II, DNA-binding protein, Substrate Specificity, Histones, Mice, 03 medical and health sciences, Transcription (biology), Animals, Micrococcal Nuclease, Nucleosome, Promoter Regions, Genetic, Transcription factor, Epigenomics, Genetics, Genome, Multidisciplinary, biology, [ SDV ] Life Sciences [q-bio], DNA Helicases, Nuclear Proteins, Mouse Embryonic Stem Cells, Chromatin Assembly and Disassembly, Nucleosomes, Chromatin, Cell biology, DNA-Binding Proteins, 030104 developmental biology, Histone, Gene Expression Regulation, Trans-Activators, biology.protein, RNA Polymerase II, Transcription Initiation Site, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1951645f8e2f1dca5b56ec7084154b4b
https://hal.archives-ouvertes.fr/hal-01412602

المؤلفون: Jonathan L. Haines, Jackie B. Rimmler, O. Boesplug-Tanguy, Margaret A. Pericak-Vance, A. Dautigny, Melissa E. Garcia, Sabine Fauré, C. Gartioux, Cécile Fizames, Florence Ribierre, Robin R. Lincoln, R. Carsique, Stephen L. Hauser, Antony Rombos, Jorge R. Oksenberg, Eric Seboun, R. Fitoussi, Cecile Reyes, D. Pham-Dinh, Koishiro Usuku, Gabor Gyapay, Donald E. Goodkin, Jean Weissenbach, Michael Wong

المصدر: neurogenetics. 2:155-162

مصطلحات موضوعية: Genetic Markers, Multiple Sclerosis, Proteolipid protein 1, Genotype, Genetic Linkage, Population, GPI-Linked Proteins, White People, Myelin oligodendrocyte glycoprotein, Cellular and Molecular Neuroscience, Myelin, Genetic linkage, Genetics, Demyelinating disease, medicine, Humans, Myelin Proteolipid Protein, education, Genetics (clinical), DNA Primers, Family Health, education.field_of_study, biology, Myelin Basic Protein, medicine.disease, Myelin basic protein, Myelin-Associated Glycoprotein, Oligodendrocyte-Myelin Glycoprotein, medicine.anatomical_structure, nervous system, biology.protein, Myelin-Oligodendrocyte Glycoprotein, Myelin Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbd1aade10c3431b8b571eed7a008e11
https://doi.org/10.1007/s100480050076

المؤلفون: Gwang-Jin Kim, Leila Abid, Werner Schempp, Franz P.W. Radner, Judith Fischer, Slaheddine Marrakchi, Hamida Turki, Peter Kirchmeier, Florence Ribierre, Roland Heilig, Mark Lathrop, Bourane Kamoun, Michael Leipoldt

المصدر: PLoS Genetics
PLoS Genetics, Vol 9, Iss 6 (2013)

مصطلحات موضوعية: Genetics, Cancer Research, Section (typography), Congenital ichthyosis, Correction, Genomics, QH426-470, Biology, Molecular Biology, Genome, Genetics (clinical), Ecology, Evolution, Behavior and Systematics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80ae4cdced08f9b9795c008a4f963719
https://doi.org/10.1371/annotation/df5af830-8e1d-495a-a206-f881ed85e7fe

المؤلفون: Corine Gartioux, Meral Özgüç, Erem Tokus, Jacques S. Beckmann, Florence Ribierre, Meral Topçu, Eric Seboun, Cengiz Yalcinkaya, Neşe Öztekin

مصطلحات موضوعية: Genetics, Candidate gene, Megalencephalic leukoencephalopathy with subcortical cysts, Genetic heterogeneity, Leukodystrophy, Biology, medicine.disease, Leukoencephalopathy, Map(s)/mapping, Gene mapping, Genetic linkage, Report, medicine, Genetics(clinical), vacuolizing megalencephalic, Megalencephaly, Chromosome 22q, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97a7fcc4d297574d6944514a7b52ebd8
https://europepmc.org/articles/PMC1288127/

المؤلفون: Bourane Kamoun, Michael Leipoldt, Leila Abid, Werner Schempp, Slaheddine Marrakchi, Gwang-Jin Kim, Florence Ribierre, Roland Heilig, Peter Kirchmeier, Judith Fischer, Franz P.W. Radner, Hamida Turki, Mark Lathrop

المصدر: PLoS Genetics, Vol 9, Iss 6, p e1003536 (2013)
PLoS Genetics

مصطلحات موضوعية: Cancer Research, Heredity, Gene Identification and Analysis, Pediatric Dermatology, Genome-wide association study, medicine.disease_cause, ADAMTS Proteins, Autosomal Recessive, Sphingosine N-Acyltransferase, Congenital ichthyosis, Genetics (clinical), Genetics, Mutation, Splice site mutation, biology, Homozygote, Ceramide synthase 3, Linkage (Genetics), Genetic disorder, Phenotype, Organ Specificity, Cytogenetic Analysis, Medicine, RNA, Long Noncoding, Research Article, Tunisia, lcsh:QH426-470, Genotypes, Genes, Recessive, Dermatology, Polymorphism, Single Nucleotide, Molecular Genetics, Cytogenetics, Genetic Mutation, medicine, Animals, Humans, Biology, Molecular Biology, Ecology, Evolution, Behavior and Systematics, Clinical Genetics, Sphingolipids, Human Genetics, Ichthyosiform Erythroderma, Congenital, medicine.disease, Sphingolipid, ADAM Proteins, lcsh:Genetics, Genetics of Disease, biology.protein, RNA Splice Sites, Gene Function, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::763ed9cb67f3a2b74eb7bb146dad34a2
https://doi.org/10.1371/journal.pgen.1003536