학술논문


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'학술논문' 에서 검색결과 77건 | 목록 1~20
Academic Journal
Nature
Nature; Vol 463
Walters, R G, Jacquemont, S, Valsesia, A, de Smith, A J, Martinet, D, Andersson, J, Falchi, M, Chen, F, Andrieux, J, Lobbens, S, Delobel, B, Stutzmann, F, El-Sayed Moustafa, J S, Chèvre, J-C, Lecoeur, C, Vatin, V, Bouquillon, S, Buxton, J L, Boute, O, Holder-Espinasse, M, Cuisset, J-M, Lemaitre, M-P, Ambresin, A-E, Brioschi, A, Gaillard, M, Giusti, V, Fellmann, F, Ferrarini, A, Hadjikhani, N, Campion, D, Guilmatre, A, Goldenberg, A, Calmels, N, Mandel, J-L, Le Caignec, C, David, A, Isidor, B, Cordier, M-P, Dupuis-Girod, S, Labalme, A, Sanlaville, D, Béri-Dexheimer, M, Jonveaux, P, Leheup, B, Ounap, K, Bochukova, E G, Henning, E, Keogh, J, Ellis, R J, Macdermot, K D, van Haelst, M M, Vincent-Delorme, C, Plessis, G, Touraine, R, Philippe, A, Malan, V, Mathieu-Dramard, M, Chiesa, J, Blaumeiser, B, Kooy, R F, Caiazzo, R, Pigeyre, M, Balkau, B, Sladek, R, Bergmann, S, Mooser, V, Waterworth, D, Reymond, A, Vollenweider, P, Waeber, G, Kurg, A, Palta, P, Esko, T, Metspalu, A, Nelis, M, Elliott, P, Hartikainen, A-L, McCarthy, M I, Peltonen, L, Carlsson, L, Jacobson, P, Sjöström, L, Huang, N, Hurles, M E, O'Rahilly, S, Farooqi, I S, Männik, K, Jarvelin, M-R, Pattou, F, Meyre, D, Walley, A J, Coin, L J M, Blakemore, A I F, Froguel, P & Beckmann, J S 2010, 'A new highly penetrant form of obesity due to deletions on chromosome 16p11.2', Nature, vol. 463, no. 7281, pp. 671-5. https://doi.org/10.1038/nature08727
Nature, vol. 463, no. 7281, pp. 671-675
Academic Journal
Zufferey, FSherr, E. HBeckmann, N. DHanson, EMaillard, A. MHippolyte, LMacé, AFerrari, CKutalik, ZAndrieux, JAylward, EBarker, MBernier, RBouquillon, SConus, PDelobel, BFaucett, W. AGoin-Kochel, R. PGrant, EHarewood, LHunter, J. VLebon, SLedbetter, D. HMartin, C. LMännik, KMartinet, DMukherjee, PRamocki, M. BSpence, S. JSteinman, K. JTjernage, JSpiro, J. EReymond, ABeckmann, J. SChung, W. KJacquemont, SAddor, M. CArveiler, BBelfiore, MBena, FBernardini, LBlanchet, PBonneau, DBoute, OCallier, PCampion, DChiesa, JCordier, M. PCuisset, J. MDavid, ADe Leeuw, NDe Vries, BDidelot, GDoco-Fenzy, MBedu, B. DDubourg, CDupuis-Girod, SFagerberg, C. RFaivre, LFellmann, FFernandez, B. AFisher, RFlori, EGoldenberg, AHeron, DHolder, MHoyer, JIsidor, BJaillard, SJonveaux, PJoriot, SJournel, HKooy, Fle Caignec, CLeheup, BLemaitre, M. -PLewis, SMalan, VMathieu-Dramard, MMetspalu, AMorice-Picard, FMucciolo, MOiglane-Shlik, EOunap, KPasquier, LPetit, FPhilippe, APlessis, GPrieur, FPuechberty, JRajcan-Separovic, ERauch, ARenieri, ARieubland, CRooryck, CRötzer, K. MRuiter, MSanlaville, DSelmoni, SShen, YSiffredi, VThonney, JVallée, LVan Binsbergen, EVan der Aa, NVan Haelst, M. MVigneron, JVincent-Delorme, CVittoria, DVulto-Van Silfhout, A. TWitwicki, R. MZwolinski, S. ABowe, ABeaudet, A. LBrewton, C. MChu, ZDempsey, A. GEvans, Y. LGarza, SKanne, S. MLaakman, A. LLasala, M. WLlorens, A. VMarzano, GMoss, T. JNowell, K. PProud, M. BChen, QVaughan, RBerman, JBlaskey, LHines, KKessler, SKhan, S. YQasmieh, SBibb, A. LPaal, A. MPage, P. ZSmith-Packard, BBuckner, RBurko, JCavanagh, A. LCerban, BSnow, A. VSnyder, L. GKeehn, R. MMiller, D. TMiller, F. KOlson, J. ETriantafallou, CVisyak, NAtwell, CBenedetti, MFischbach, G. DGreenup, MPacker, ABukshpun, PCheong, MDale, CGobuty, S. EHinkley, LJeremy, R. JLee, HLuks, T. LMarco, E. JMartin, A. JMcGovern, K. ENagarajan, S. SOwen, JPaul, B. MPojman, N. JSinha, TSwarnakar, VWakahiro, MAlupay, HAaronson, BAckerman, SAnkenman, KElgin, JGerdts, JJohnson, KReilly, BShaw, DStevens, AWard, TWenegrat, JRoberts, T. P. L.
J Med Genet
Journal of Medical Genetics, vol. 49, no. 10, pp. 660-668
Journal of Medical Genetics, vol 49, iss 10
Journal of medical genetics
JOURNAL OF MEDICAL GENETICS
Academic Journal
Nicot F; CHU Toulouse, IFB Purpan, Laboratoire de Virologie, Toulouse, France.; Alric LBarange KMétivier SDramard JMCombis JMCastan BMeurisse JJPayen JLGaripuy DDesmorat HPeron JMThebault SMorin TRenou CBarel PGuerin BImbert YSire SSauné KChatelut EIzopet J
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7705876 Publication Model: Print Cited Medium: Internet ISSN: 1096-9071 (Electronic) Linking ISSN: 01466615 NLM ISO Abbreviation: J Med Virol Subsets: MEDLINE
Academic Journal
Naveau S; Services d'Hépato-Gastroentérologie, Hôpital Antoine-Béclère, Clamart.; Giraud VGanne NPerney PHastier PRobin EPessione FChossegros PLahmek PFontaine HRibard DDao TFiloche BEl Jammal GSeyrig JADramard JMChousterman MPillegand B
Publisher: Elsevier Masson Country of Publication: France NLM ID: 7704825 Publication Model: Print Cited Medium: Print ISSN: 0399-8320 (Print) Linking ISSN: 03998320 NLM ISO Abbreviation: Gastroenterol Clin Biol Subsets: MEDLINE
Academic Journal
Cougard P; Clinique Chirurgicale, CHR du Bocage, Dijon.; Dramard JMFrexinos JRichon MH
Publisher: Editions Elsevier Country of Publication: France NLM ID: 0140722 Publication Model: Print Cited Medium: Print ISSN: 0003-3944 (Print) Linking ISSN: 00033944 NLM ISO Abbreviation: Ann Chir Subsets: MEDLINE
Report
Publisher: Elsevier Masson Country of Publication: France NLM ID: 8302490 Publication Model: Print Cited Medium: Print ISSN: 0755-4982 (Print) Linking ISSN: 07554982 NLM ISO Abbreviation: Presse Med Subsets: MEDLINE
Report
Publisher: Elsevier Masson Country of Publication: France NLM ID: 7704825 Publication Model: Print Cited Medium: Print ISSN: 0399-8320 (Print) Linking ISSN: 03998320 NLM ISO Abbreviation: Gastroenterol Clin Biol Subsets: MEDLINE
Academic Journal
Publisher: Elsevier Masson Country of Publication: France NLM ID: 7704825 Publication Model: Print Cited Medium: Print ISSN: 0399-8320 (Print) Linking ISSN: 03998320 NLM ISO Abbreviation: Gastroenterol Clin Biol Subsets: MEDLINE
Report
Publisher: Elsevier Masson Country of Publication: France NLM ID: 8302490 Publication Model: Print Cited Medium: Print ISSN: 0755-4982 (Print) Linking ISSN: 07554982 NLM ISO Abbreviation: Presse Med Subsets: MEDLINE
Academic Journal
Cougard P; Service de Chirurgie II, Hôpital du Bocage, Dijon.; Dramard JMMorin FFerry C
Publisher: Masson Et Cie Country of Publication: France NLM ID: 0374754 Publication Model: Print Cited Medium: Print ISSN: 0021-7697 (Print) Linking ISSN: 00217697 NLM ISO Abbreviation: J Chir (Paris) Subsets: MEDLINE
Academic Journal
Publisher: Masson Country of Publication: France NLM ID: 0044500 Publication Model: Print Cited Medium: Print ISSN: 0003-9772 (Print) Linking ISSN: 00039772 NLM ISO Abbreviation: Arch Fr Mal App Dig Subsets: MEDLINE
Report
Publisher: Elsevier Masson Country of Publication: France NLM ID: 8302490 Publication Model: Print Cited Medium: Print ISSN: 0755-4982 (Print) Linking ISSN: 07554982 NLM ISO Abbreviation: Presse Med Subsets: MEDLINE
Academic Journal
Allach El Khattabi L; Cytogenetics department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris; Sorbonne Paris Cité, Paris Descartes University, Medical school, Paris, France.; Department of Development, Reproduction and Cancer, Cochin Research Institute, INSERM U1016, CNRS UMR8104, Paris, France.; Nuclear Lymphocyte Biology, NIAMS, National Institutes of Health, Bethesda, Maryland, United States.; Heide S; Cytogenetics department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris; Sorbonne Paris Cité, Paris Descartes University, Medical school, Paris, France.; Caberg JH; Genetics department, CHU de Liège - UniLab Lg, Liège, Belgium.; Andrieux J; Genetics department, Jeanne de Flandre Hospital, CHRU de Lille, Lille, France.; Doco Fenzy M; Genetics department, CHU Reims, Medical school IFR53, EA3801, Reims, France.; Vincent-Delorme C; Genetics department, Guy Fontaine Medical center, CLAD Nord de France, Jeanne de Flandre Hospital, CHRU Lille, CH Arras, Arras, France.; Callier P; Genetics department, CHU de Dijon, Dijon, France.; Chantot-Bastaraud S; Genetics and Embryology department, Armand-Trousseau Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.; Afenjar A; Neuropediatrics department, Armand-Trousseau Hospital, Assistance Publique des Hôpitaux de Paris; Reference Center for cerebellar malformations, Paris, France.; Boute-Benejean O; Genetics department, Guy Fontaine Medical Center, CLAD Nord de France, Jeanne de Flandre Hospital, CHRU Lille, Lille, France.; Cordier MP; Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France.; Faivre L; Genetics department, CHU de Dijon, Dijon, France.; Francannet C; Medical Genetics department, Hôtel Dieu Hospital, Clermont-Ferrand, France.; Gerard M; Genetics department, CHU Côte de Nacre, Caen, France.; Goldenberg A; Medical Genetics department, CHU Ch. Nicolle, Rouen, France.; Masurel-Paulet A; Genetics department, CHU de Dijon, Dijon, France.; Mosca-Boidron AL; Genetics department, CHU de Dijon, Dijon, France.; Marle N; Genetics department, CHU de Dijon, Dijon, France.; Moncla A; Medical Genetics department, CHU Timone enfants, Assistance Publique des Hôpitaux de Marseille, Marseille, France.; Le Meur N; Department of Genetics, Reproductive biology and Histology, CHU de Rouen, Rouen, France.; Mathieu-Dramard M; Clinical Genetics department, CHU d'Amiens, Amiens, France.; Plessis G; Genetics department, CHU Côte de Nacre, Caen, France.; Lesca G; Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France.; GENDEV Team, CRNL, CNRS UMR 5292, INSERM U1028; Claude Bernard Lyon I University, Lyon, France.; Rossi M; Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France.; GENDEV Team, CRNL, CNRS UMR 5292, INSERM U1028; Claude Bernard Lyon I University, Lyon, France.; Edery P; Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France.; GENDEV Team, CRNL, CNRS UMR 5292, INSERM U1028; Claude Bernard Lyon I University, Lyon, France.; Delahaye-Duriez A; Department of Histology Embryology and Cytogenetics, Jean Verdier Hospital; Paris 13 University, Sorbonne Paris Cité, UFR SMBH Bobigny; PROTECT, INSERM, Paris Diderot University, Bondy, France.; Division of Brain Sciences, Faculty of Medicine, Imperial College, London, UK.; De Pontual L; Pediatrics department, Jean Verdier Hospital, Assistance Publique des Hôpitaux de Paris, Paris 13 University, Bondy, France.; Tabet AC; Genetics department, CHU Robert Debré, Assistance Publique des Hôpitaux de Paris, Paris, France.; Lebbar A; Cytogenetics department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris; Sorbonne Paris Cité, Paris Descartes University, Medical school, Paris, France.; Suiro L; Neuropediatrics department, Hôpital Raymond Poincaré, Assistance Publique des Hôpitaux de Paris, Garches, France.; Ioos C; Neuropediatrics department, Hôpital Raymond Poincaré, Assistance Publique des Hôpitaux de Paris, Garches, France.; Natiq A; Medical Genetics department, Institut National d'Hygiène, Rabat, Morocco.; Chafai Elalaoui S; Medical Genetics department, Institut National d'Hygiène, Rabat, Morocco.; Missirian C; Medical Genetics department, CHU Timone enfants, Assistance Publique des Hôpitaux de Marseille, Marseille, France.; Receveur A; Cytogenetics and Reproductive Biology department, CHU d'Amiens, Amiens, France.; François-Fiquet C; Plastic reconstructive and aesthetic surgery, Maison Blanche Hospital, Robert Debré Hospital, Reims, France.; Garnier P; Pediatrics, CAMSP, Troyes, France.; Yardin C; Department of Histology, Cytology, Cytogenetics, Cell Biology and Reproduction, Limoges University Hospital, Limoges, France.; Laroche C; Pediatrics department, Limoges University Hospital, Limoges, France.; Vago P; Cytogenetics department, CHU Clermont-Ferrand, ERTICA, Auvergne University, Clermont-Ferrand, France.; Sanlaville D; Genetics department, GH Est, Hospices Civils de Lyon, Lyon, France.; GENDEV Team, CRNL, CNRS UMR 5292, INSERM U1028; Claude Bernard Lyon I University, Lyon, France.; Dupont JM; Cytogenetics department, Cochin Hospital, Assistance Publique des Hôpitaux de Paris; Sorbonne Paris Cité, Paris Descartes University, Medical school, Paris, France.; Department of Development, Reproduction and Cancer, Cochin Research Institute, INSERM U1016, CNRS UMR8104, Paris, France.; Benzacken B; Department of Histology Embryology and Cytogenetics, Jean Verdier Hospital; Paris 13 University, Sorbonne Paris Cité, UFR SMBH Bobigny; PROTECT, INSERM, Paris Diderot University, Bondy, France.; Pipiras E; Department of Histology Embryology and Cytogenetics, Jean Verdier Hospital; Paris 13 University, Sorbonne Paris Cité, UFR SMBH Bobigny; PROTECT, INSERM, Paris Diderot University, Bondy, France.
Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Academic Journal
Jacquemont S; Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.; Reymond AZufferey FHarewood LWalters RGKutalik ZMartinet DShen YValsesia ABeckmann NDThorleifsson GBelfiore MBouquillon SCampion Dde Leeuw Nde Vries BBEsko TFernandez BAFernández-Aranda FFernández-Real JMGratacòs MGuilmatre AHoyer JJarvelin MRKooy RFKurg ALe Caignec CMännik KPlatt OSSanlaville DVan Haelst MMVillatoro Gomez SWalha FWu BLYu YAboura AAddor MCAlembik YAntonarakis SEArveiler BBarth MBednarek NBéna FBergmann SBeri MBernardini LBlaumeiser BBonneau DBottani ABoute OBrunner HGCailley DCallier PChiesa JChrast JCoin LCoutton CCuisset JMCuvellier JCDavid Ade Freminville BDelobel BDelrue MADemeer BDescamps DDidelot GDieterich KDisciglio VDoco-Fenzy MDrunat SDuban-Bedu BDubourg CEl-Sayed Moustafa JSElliott PFaas BHFaivre LFaudet AFellmann FFerrarini AFisher RFlori EForer LGaillard DGerard MGieger CGimelli SGimelli GGrabe HJGuichet AGuillin OHartikainen ALHeron DHippolyte LHolder MHomuth GIsidor BJaillard SJaros ZJiménez-Murcia SHelas GJJonveaux PKaksonen SKeren BKloss-Brandstätter AKnoers NVKoolen DAKroisel PMKronenberg FLabalme ALandais ELapi ELayet VLegallic SLeheup BLeube BLewis SLucas JMacDermot KDMagnusson PMarshall CMathieu-Dramard MMcCarthy MIMeitinger TMencarelli MAMerla GMoerman AMooser VMorice-Picard FMucciolo MNauck MNdiaye NCNordgren APasquier LPetit FPfundt RPlessis GRajcan-Separovic ERamelli GPRauch ARavazzolo RReis ARenieri ARichart CRied JSRieubland CRoberts WRoetzer KMRooryck CRossi MSaemundsen ESatre VSchurmann CSigurdsson EStavropoulos DJStefansson HTengström CThorsteinsdóttir UTinahones FJTouraine RVallée Lvan Binsbergen EVan der Aa NVincent-Delorme CVisvikis-Siest SVollenweider PVölzke HVulto-van Silfhout ATWaeber GWallgren-Pettersson CWitwicki RMZwolinksi SAndrieux JEstivill XGusella JFGustafsson OMetspalu AScherer SWStefansson KBlakemore AIBeckmann JSFroguel P
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE
Academic Journal
Nizon M; Département de Génétique, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE UMR_S1163, Hôpital Necker-Enfants Malades, Paris, France.; Andrieux JRooryck Cde Blois MCBourel-Ponchel EBourgois BBoute ODavid ADelobel BDuban-Bedu BGiuliano FGoldenberg AGrotto SHéron DKarmous-Benailly HKeren BLacombe DLapierre JMLe Caignec CLe Galloudec ELe Merrer MLe Moing AGMathieu-Dramard MNusbaum SPichon OPinson LRaoul ORio MRomana SRoubertie AColleaux LTurleau CVekemans MNabbout RMalan V
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Academic Journal
Schluth-Bolard C; Service de Génétique, Hospices Civils de Lyon, Bron, France.; INSERM U1028, CNRS UMR5292, UCBL1, GENDEV Team, Neurosciences Research Center of Lyon, Bron, France.; Diguet F; Service de Génétique, Hospices Civils de Lyon, Bron, France.; INSERM U1028, CNRS UMR5292, UCBL1, GENDEV Team, Neurosciences Research Center of Lyon, Bron, France.; Chatron N; Service de Génétique, Hospices Civils de Lyon, Bron, France.; INSERM U1028, CNRS UMR5292, UCBL1, GENDEV Team, Neurosciences Research Center of Lyon, Bron, France.; Rollat-Farnier PA; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Bardel C; Cellule bioinformatique de la plateforme NGS, Hospices Civils de Lyon, CNRS, Laboratoire de Biométrie et Biologie Evolutive UMR5558, Lyon 1 University, Bron, France.; Afenjar A; Département de génétique et embryologie médicale, Centre de référence des déficiences intellectuelles de causes rares, AP-HP, Hôpital Armand Trousseau, Paris, France.; GRC n°19, pathologies Congénitales du Cervelet-LeucoDystrophies, AP-HP, Hôpital Armand Trousseau, Sorbonne Université, Paris, France.; Amblard F; Laboratoire de Génétique Chromosomique, Hôpital Couple Enfant, CHU Grenoble, Grenoble, France.; Amiel J; Service de Génétique Médicale, Hôpital Necker-Enfants Malades, Paris, France.; Blesson S; Service de Génétique, CHRU de Tours, Tours, France.; Callier P; Laboratoire de Cytogénétique, CHU Dijon, Dijon, France.; Capri Y; Département de Génétique, Hôpital Robert Debré, Paris, France.; Collignon P; Service de Génétique Médicale, CHI Toulon, Toulon, France.; Cordier MP; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Coubes C; Service de Génétique, Hôpital Arnaud de Villeneuve, Montpellier, France.; Demeer B; Centre d'activité de génétique clinique, CLAD nord de France, CHU Amiens, Amiens, France.; Chaussenot A; Service de Génétique Médicale, CHU Nice, Nice, France.; Demurger F; Service de Génétique Clinique, CHU Rennes, Rennes, France.; Devillard F; Laboratoire de Génétique Chromosomique, Hôpital Couple Enfant, CHU Grenoble, Grenoble, France.; Doco-Fenzy M; Service de Génétique, EA3801, SFR CAP SANTE, CHU Reims, Reims, France.; Dupont C; Département de Génétique, Hôpital Robert Debré, Paris, France.; Dupont JM; Laboratoire de Cytogénétique Constitutionnelle, APHP-HUPC site Cochin, Paris, France.; Dupuis-Girod S; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Faivre L; Centre de référence anomalies du développement et syndromes malformatifs, FHU TRANSLAD et équipe GAD INSERM UMR1231, CHU Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France.; Gilbert-Dussardier B; Service de Génétique, EA3808, Université de Poitiers, CHU de Poitiers, Poitiers, France.; Guerrot AM; Unité de Génétique Clinique, CHU de Rouen, Rouen, France.; Houlier M; Service de Génétique Médicale, Hôpital Necker-Enfants Malades, Paris, France.; Isidor B; Service de Génétique Médicale, CHU-Nantes, Nantes, France.; Jaillard S; Laboratoire de Cytogénétique et de Biologie Cellulaire, CHU Pontchaillou, Rennes, France.; Joly-Hélas G; Laboratoire de Cytogénétique, CHU de Rouen, Rouen, France.; Kremer V; Laboratoire de Cytogénétique, CHU Strasbourg, Strasbourg, France.; Lacombe D; Service de Génétique Médicale, Hôpital Pellegrin, Université de Bordeaux, MRGM INSERM U1211, CHU Bordeaux, Bordeaux, France.; Le Caignec C; Service de Génétique Médicale, CHU-Nantes, Nantes, France.; Lebbar A; Laboratoire de Cytogénétique Constitutionnelle, APHP-HUPC site Cochin, Paris, France.; Lebrun M; Service de Génétique Clinique, Chromosomique et Moléculaire, CHU Hôpital Nord, Saint-Etienne, France.; Lesca G; Service de Génétique, Hospices Civils de Lyon, Bron, France.; INSERM U1028, CNRS UMR5292, UCBL1, GENDEV Team, Neurosciences Research Center of Lyon, Bron, France.; Lespinasse J; Laboratoire de Génétique Chromosomique, CH Général, Chambéry, France.; Levy J; Département de Génétique, Hôpital Robert Debré, Paris, France.; Malan V; Service de Cytogénétique, Hôpital Necker Enfants Malades, Paris, France.; Mathieu-Dramard M; Centre d'activité de génétique clinique, CLAD nord de France, CHU Amiens, Amiens, France.; Masson J; Service de Génétique, Hospices Civils de Lyon, Bron, France.; INSERM U1028, CNRS UMR5292, UCBL1, GENDEV Team, Neurosciences Research Center of Lyon, Bron, France.; Masurel-Paulet A; Centre de référence anomalies du développement et syndromes malformatifs, FHU TRANSLAD et équipe GAD INSERM UMR1231, CHU Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France.; Mignot C; Département de Génétique; Centre de Référence Déficience Intellectuelle de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, APHP, Paris, France.; Missirian C; Laboratoire de Génétique Chromosomique, Département de Génétique Médicale, AP-HM, Marseille, France.; Morice-Picard F; Service de Génétique Médicale, Hôpital Pellegrin, Université de Bordeaux, MRGM INSERM U1211, CHU Bordeaux, Bordeaux, France.; Moutton S; Service de Génétique Médicale, Hôpital Pellegrin, Université de Bordeaux, MRGM INSERM U1211, CHU Bordeaux, Bordeaux, France.; Nadeau G; Laboratoire de Génétique Chromosomique, CH Général, Chambéry, France.; Service de Cytogénétique, CH Valence, Valence, France.; Pebrel-Richard C; Service de Cytogénétique Médicale, Hôpital Estaing, CHU Clermont-Ferrand, Clermont-Ferrand, France.; Odent S; Service de Génétique Clinique, CHU Rennes, Rennes, France.; CNRS, IGDR (Institut de Génétique et Développement de Rennes) UMR 6290, Université de Rennes, Rennes, France.; Paquis-Flucklinger V; Service de Génétique Médicale, CHU Nice, Nice, France.; Pasquier L; Service de Génétique Clinique, CHU Rennes, Rennes, France.; Philip N; Département de Génétique Médicale, Unité de Génétique Clinique, AP-HM, Marseille, France.; Plutino M; Service de Génétique Médicale, CHU Nice, Nice, France.; Pons L; Service de Génétique, Hospices Civils de Lyon, Bron, France.; INSERM U1028, CNRS UMR5292, UCBL1, GENDEV Team, Neurosciences Research Center of Lyon, Bron, France.; Portnoï MF; Département de génétique et embryologie médicale, Centre de référence des déficiences intellectuelles de causes rares, AP-HP, Hôpital Armand Trousseau, Paris, France.; Prieur F; Service de Génétique Clinique, Chromosomique et Moléculaire, CHU Hôpital Nord, Saint-Etienne, France.; Puechberty J; Service de Génétique, Hôpital Arnaud de Villeneuve, Montpellier, France.; Putoux A; Service de Génétique, Hospices Civils de Lyon, Bron, France.; INSERM U1028, CNRS UMR5292, UCBL1, GENDEV Team, Neurosciences Research Center of Lyon, Bron, France.; Rio M; Service de Génétique Médicale, Hôpital Necker-Enfants Malades, Paris, France.; Rooryck-Thambo C; Service de Génétique Médicale, Hôpital Pellegrin, Université de Bordeaux, MRGM INSERM U1211, CHU Bordeaux, Bordeaux, France.; Rossi M; Service de Génétique, Hospices Civils de Lyon, Bron, France.; INSERM U1028, CNRS UMR5292, UCBL1, GENDEV Team, Neurosciences Research Center of Lyon, Bron, France.; Sarret C; Service de Génétique Médicale, Hôpital Estaing, CHU Clermont-Ferrand, Clermont-Ferrand, France.; Satre V; Laboratoire de Génétique Chromosomique, Hôpital Couple Enfant, CHU Grenoble, Grenoble, France.; Equipe Génétique, Epigénétique et Thérapies de l'Infertilité, IAB, INSERM 1209, CNRS UMR5309, Grenoble, France.; Siffroi JP; Département de génétique et embryologie médicale, Centre de référence des déficiences intellectuelles de causes rares, AP-HP, Hôpital Armand Trousseau, Paris, France.; Till M; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Touraine R; Service de Génétique Clinique, Chromosomique et Moléculaire, CHU Hôpital Nord, Saint-Etienne, France.; Toutain A; Service de Génétique, CHRU de Tours, Tours, France.; Toutain J; Service de Génétique Médicale, Hôpital Pellegrin, Université de Bordeaux, MRGM INSERM U1211, CHU Bordeaux, Bordeaux, France.; Valence S; GRC n°19, pathologies Congénitales du Cervelet-LeucoDystrophies, AP-HP, Hôpital Armand Trousseau, Sorbonne Université, Paris, France.; Service de Neurologie Pédiatrique, Hôpital Armand Trousseau, APHP, GHUEP, Paris, France.; Verloes A; Département de Génétique, Hôpital Robert Debré, Paris, France.; Whalen S; Département de génétique et embryologie médicale, Centre de référence des déficiences intellectuelles de causes rares, AP-HP, Hôpital Armand Trousseau, Paris, France.; Edery P; Service de Génétique, Hospices Civils de Lyon, Bron, France.; INSERM U1028, CNRS UMR5292, UCBL1, GENDEV Team, Neurosciences Research Center of Lyon, Bron, France.; Tabet AC; Département de Génétique, Hôpital Robert Debré, Paris, France.; Sanlaville D; Service de Génétique, Hospices Civils de Lyon, Bron, France.; INSERM U1028, CNRS UMR5292, UCBL1, GENDEV Team, Neurosciences Research Center of Lyon, Bron, France.
Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
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Thauvin-Robinet C; Equipe d'Accueil 4271, Génétique des Anomalies du Developpement, Université de Bourgogne, F-21079 Dijon, France. christel.thauvin@chu-dijon.fr; Auclair MDuplomb LCaron-Debarle MAvila MSt-Onge JLe Merrer MLe Luyer BHéron DMathieu-Dramard MBitoun PPetit JMOdent SAmiel JPicot DCarmignac VThevenon JCallier PLaville MReznik YFagour CNunes MLCapeau JLascols OHuet FFaivre LVigouroux CRivière JB
Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
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