학술논문


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'학술논문' 에서 검색결과 294건 | 목록 1~20
Academic Journal
Cogné, BenjaminLatypova, XeniaSenaratne, Lokuliyanage Dona SamuditaMartin, LudovicKoboldt, Daniel C.Kellaris, GeorgiosFievet, LorraineLe Meur, GuylèneCaldari, DominiqueDebray, DominiqueNizon, MathildeFrengen, EirikBowne, Sara J.Cadena, Elizabeth L.Daiger, Stephen P.Bujakowska, Kinga M.Pierce, Eric A.Gorin, MichaelKatsanis, NicholasBézieau, StéphanePetersen-Jones, Simon M.Occelli, Laurence M.Lyons, Leslie A.Legeai-Mallet, LaurenceSullivan, Lori S.Davis, Erica E.Isidor, BertrandBuckley, Reuben M.Aberdein, DanielleAlves, Paulo C.Barsh, Gregory S.Bellone, Rebecca R.Bergström, Tomas F.Boyko, Adam R.Brockman, Jeffrey A.Casal, Margret L.Castelhano, Marta G.Distl, OttmarDodman, Nicholas H.Ellinwood, N. MatthewFogle, Jonathan E.Forman, Oliver P.Garrick, Dorian J.Ginns, Edward I.Häggström, JensHarvey, Robert J.Hasegawa, DaisukeHaase, BiancaHelps, Christopher R.Hernandez, IsabelHytönen, Marjo K.Kaukonen, MariaKaelin, Christopher B.Kosho, TomokiLeclerc, EmilieLear, Teri L.Leeb, TossoLi, Ronald H.L.Lohi, HannesLongeri, MariaMagnuson, Mark A.Malik, RichardMane, Shrinivas P.Munday, John S.Murphy, William J.Pedersen, Niels C.Rothschild, Max F.Rusbridge, ClareShapiro, BethStern, Joshua A.Swanson, William F.Terio, Karen A.Todhunter, Rory J.Warren, Wesley C.Wilcox, Elizabeth A.Wildschutte, Julia H.Yu, Yoshihiko
American journal of human genetics, vol 106, iss 6
Academic Journal
Legeai-Mallet L; Université de Paris Cité, Imagine Institute, INSERM UMR 1163, Paris F-75015, France.; Shah B; BridgeBio Pharma Inc., San Francisco, CA, United States.
Publisher: Oxford University Press Country of Publication: England NLM ID: 8610640 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE
Academic Journal
Demuynck B; Imagine Institute, INSERM UMR 1163, Université de Paris Cité, F-75015 Paris, France.; Shah BP; BridgeBio Pharma, QEd Therapeutics, San Francisco, 94158 CA, United States.; Mayeux F; Imagine Institute, INSERM UMR 1163, Université de Paris Cité, F-75015 Paris, France.; Vasseur L; CNRS, ITODYS, Université Paris Cité, F-75013 Paris, France.; Barbault F; CNRS, ITODYS, Université Paris Cité, F-75013 Paris, France.; Ding J; BridgeBio Pharma, QEd Therapeutics, San Francisco, 94158 CA, United States.; Paull M; BridgeBio Pharma, QEd Therapeutics, San Francisco, 94158 CA, United States.; Reddi T; BridgeBio Pharma, QEd Therapeutics, San Francisco, 94158 CA, United States.; Muslimova E; BridgeBio Pharma, QEd Therapeutics, San Francisco, 94158 CA, United States.; Legeai-Mallet L; Imagine Institute, INSERM UMR 1163, Université de Paris Cité, F-75015 Paris, France.
Publisher: Oxford University Press Country of Publication: England NLM ID: 8610640 Publication Model: Print Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE
Academic Journal
Morice A; Université de Paris Cité, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Paris, France.; de La Seiglière A; Université de Paris Cité, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Paris, France.; Kany A; Université de Paris Cité, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Paris, France.; Khonsari RH; Université de Paris Cité, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Paris, France.; Bensidhoum M; B3OA UMR CNRS 7052, Université Paris Cité, Paris, France.; Puig-Lombardi ME; Bioinformatics Core Platform, Imagine Institute, INSERM UMR1163 and Structure Fédérative de Recherche Necker, INSERM US24/CNRS UAR3633, Université Paris Cité, Paris, France.; Legeai Mallet L; Université de Paris Cité, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Paris, France. laurence.legeai-mallet@inserm.fr.
Publisher: West China School of Stomatology, Sichuan University Country of Publication: China NLM ID: 101608652 Publication Model: Electronic Cited Medium: Print ISSN: 2095-4700 (Print) Linking ISSN: 20954700 NLM ISO Abbreviation: Bone Res Subsets: MEDLINE
Academic Journal
Demuynck B; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR1163, Université de Paris Cité, Imagine Institute, Paris, France.; Flipo J; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR1163, Université de Paris Cité, Imagine Institute, Paris, France.; Kaci N; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR1163, Université de Paris Cité, Imagine Institute, Paris, France.; Dambkowski C; QED Therapeutics, San Francisco, CA 94107, United States.; Paull M; QED Therapeutics, San Francisco, CA 94107, United States.; Muslimova E; QED Therapeutics, San Francisco, CA 94107, United States.; Shah BP; QED Therapeutics, San Francisco, CA 94107, United States.; Legeai-Mallet L; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR1163, Université de Paris Cité, Imagine Institute, Paris, France.
Publisher: Oxford University Press Country of Publication: England NLM ID: 8610640 Publication Model: Print Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE
Academic Journal
Morice A; Service de chirurgie maxillofaciale et chirurgie plastique, Centre de Référence Maladies Rares MAFACE, Faculté de Médecine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Paris, France. anne.morice2@aphp.fr.; Laboratoire 'Forme et Croissance du Crâne', Faculté de Médecine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Paris, France. anne.morice2@aphp.fr.; Molecular and Physiopathological Bases of Osteochondrodysplasia. INSERM UMR 1163, Imagine Institute, Paris, France. anne.morice2@aphp.fr.; Taverne M; Laboratoire 'Forme et Croissance du Crâne', Faculté de Médecine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Paris, France.; Eché S; Service de chirurgie maxillofaciale et chirurgie plastique, Centre de Référence Maladies Rares MAFACE, Faculté de Médecine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Paris, France.; Griffon L; Unité de ventilation non invasive et du sommeil de l'enfant, Faculté de Médecine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, VIFASOM, Paris, EA, France.; Fauroux B; Unité de ventilation non invasive et du sommeil de l'enfant, Faculté de Médecine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, VIFASOM, Paris, EA, France.; Leboulanger N; Service d'oto-rhino-laryngologie et chirurgie cervico-faciale, Faculté de Médecine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Paris, France.; Couloigner V; Service d'oto-rhino-laryngologie et chirurgie cervico-faciale, Faculté de Médecine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Paris, France.; Baujat G; Molecular and Physiopathological Bases of Osteochondrodysplasia. INSERM UMR 1163, Imagine Institute, Paris, France.; Centre de Référence des Maladies Osseuses Constitutionnelles, Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, Paris, France.; Cormier-Daire V; Molecular and Physiopathological Bases of Osteochondrodysplasia. INSERM UMR 1163, Imagine Institute, Paris, France.; Centre de Référence des Maladies Osseuses Constitutionnelles, Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, Paris, France.; Picard A; Service de chirurgie maxillofaciale et chirurgie plastique, Centre de Référence Maladies Rares MAFACE, Faculté de Médecine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Paris, France.; Legeai-Mallet L; Molecular and Physiopathological Bases of Osteochondrodysplasia. INSERM UMR 1163, Imagine Institute, Paris, France.; Kadlub N; Service de chirurgie maxillofaciale et chirurgie plastique, Centre de Référence Maladies Rares MAFACE, Faculté de Médecine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Paris, France.; Khonsari RH; Service de chirurgie maxillofaciale et chirurgie plastique, Centre de Référence Maladies Rares MAFACE, Faculté de Médecine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Paris, France.; Laboratoire 'Forme et Croissance du Crâne', Faculté de Médecine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Paris, France.; Molecular and Physiopathological Bases of Osteochondrodysplasia. INSERM UMR 1163, Imagine Institute, Paris, France.
Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Academic Journal
Vallin AL; Department of Obstetrics, Foetal Medicine and Surgery, Necker-Enfants Malades Hospital, APHP, University Paris Cité, Paris, France; URP FETUS 7328, Federation for Research into Innovative Explorations and Therapeutics in Utero, and LUMIERE Platform, University of Paris Cité, Paris, France.; Grévent D; URP FETUS 7328, Federation for Research into Innovative Explorations and Therapeutics in Utero, and LUMIERE Platform, University of Paris Cité, Paris, France; Department of Paediatric Radiology, Necker-Enfants Malades Hospital, APHP, University Paris Cité, Paris, France.; Bessières B; URP FETUS 7328, Federation for Research into Innovative Explorations and Therapeutics in Utero, and LUMIERE Platform, University of Paris Cité, Paris, France; Department of anatomical pathology, Necker-Enfants Malades Hospital, APHP, University Paris Cité, Paris, France.; Salomon LJ; Department of Obstetrics, Foetal Medicine and Surgery, Necker-Enfants Malades Hospital, APHP, University Paris Cité, Paris, France; URP FETUS 7328, Federation for Research into Innovative Explorations and Therapeutics in Utero, and LUMIERE Platform, University of Paris Cité, Paris, France.; Legeai-Mallet L; INSERM UMR 1163, Molecular and physiopathological bases of osteochondrodysplasia, Institut IMAGINE, Paris, France.; Cormier-Daire V; INSERM UMR 1163, Molecular and physiopathological bases of osteochondrodysplasia, Institut IMAGINE, Paris, France; Université Paris Cité, Centre Référence des Maladies Osseuses Constitutionnelles, Hôpital Necker Enfants Malades, Paris, France.; Baujat G; INSERM UMR 1163, Molecular and physiopathological bases of osteochondrodysplasia, Institut IMAGINE, Paris, France; Université Paris Cité, Centre Référence des Maladies Osseuses Constitutionnelles, Hôpital Necker Enfants Malades, Paris, France.; Ville Y; Department of Obstetrics, Foetal Medicine and Surgery, Necker-Enfants Malades Hospital, APHP, University Paris Cité, Paris, France; URP FETUS 7328, Federation for Research into Innovative Explorations and Therapeutics in Utero, and LUMIERE Platform, University of Paris Cité, Paris, France.; Faure-Bardon V; URP FETUS 7328, Federation for Research into Innovative Explorations and Therapeutics in Utero, and LUMIERE Platform, University of Paris Cité, Paris, France; Department of Obstetrics and Gynecology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France. Electronic address: valentine.faure@aphp.fr.
Publisher: Elsevier Masson SAS Country of Publication: France NLM ID: 101701588 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2468-7847 (Electronic) Linking ISSN: 24687847 NLM ISO Abbreviation: J Gynecol Obstet Hum Reprod Subsets: MEDLINE
Academic Journal
Cornille M; Université de Paris, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Institut National de la Santé et de la Recherche Médicale UMR1163, Paris, France.; Moriceau S; Institut National de la Santé et de la Recherche Médicale U1151, Institut Necker Enfants-Malades, Depart: Cell growth and Signaling, Université Paris-Sorbonne-Paris Cité, Paris, France.; Khonsari RH; Université de Paris, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Institut National de la Santé et de la Recherche Médicale UMR1163, Paris, France.; Service de Chirurgie Maxillo-Faciale et Chirurgie Plastique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Centre de Référence Maladies Rares Fentes et Malformations Faciales MAFACE, Filière Maladies Rares TeteCou, Université de Paris, Paris, France.; Heuzé Y; UMR5199 PACEA, Centre National de la Recherche Scientifique, Ministère de la Culture, Université de Bordeaux, Pessac, France.; Loisay L; Université de Paris, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Institut National de la Santé et de la Recherche Médicale UMR1163, Paris, France.; Boitez V; Institut National de la Santé et de la Recherche Médicale U1151, Institut Necker Enfants-Malades, Depart: Cell growth and Signaling, Université Paris-Sorbonne-Paris Cité, Paris, France.; Morice A; Université de Paris, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Institut National de la Santé et de la Recherche Médicale UMR1163, Paris, France.; Service de Chirurgie Maxillo-Faciale et Chirurgie Plastique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Centre de Référence Maladies Rares Fentes et Malformations Faciales MAFACE, Filière Maladies Rares TeteCou, Université de Paris, Paris, France.; Arnaud E; Service de Neurochirurgie, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Centre de Référence Maladies Rares Craniosténoses et Malformations Craniofaciales CRANIOST, Filière Maladies Rares TeteCou, Université de Paris, Paris, France.; Collet C; Service de Biochimie et Biologie Moléculaire-PôleB2P, Centre Hospitalier Universitaire Paris-GH St-Louis Lariboisière F.Widal-Hôpital Lariboisière, Paris, France.; Bensidhoum M; LaboratoireB2OA, Unité Mixte de Recherche CNRS7052, Université de Paris, Paris, France.; Kaci N; Université de Paris, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Institut National de la Santé et de la Recherche Médicale UMR1163, Paris, France.; Boddaert N; UMR-1163 Institut Imagine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Département de Radiologie Pédiatrique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Paternoster G; Service de Neurochirurgie, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Centre de Référence Maladies Rares Craniosténoses et Malformations Craniofaciales CRANIOST, Filière Maladies Rares TeteCou, Université de Paris, Paris, France.; Rauschendorfer T; Institute of Molecular Health Sciences, Eidgenössische Technische Hochschule Zurich, Zurich, Switzerland.; Werner S; Institute of Molecular Health Sciences, Eidgenössische Technische Hochschule Zurich, Zurich, Switzerland.; Mansour SL; Department of Human Genetics, University of Utah, Salt Lake City, UT.; Di Rocco F; Hôpital Femme Mère Enfant Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Lyon, France.; Oury F; Institut National de la Santé et de la Recherche Médicale U1151, Institut Necker Enfants-Malades, Depart: Cell growth and Signaling, Université Paris-Sorbonne-Paris Cité, Paris, France.; Legeai-Mallet L; Université de Paris, Imagine Institute, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Institut National de la Santé et de la Recherche Médicale UMR1163, Paris, France.
Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 2985109R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-9538 (Electronic) Linking ISSN: 00221007 NLM ISO Abbreviation: J Exp Med Subsets: MEDLINE
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[검색어] Legeai-Mallet, L.
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