Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Doray B."'
Autor:
Bloch-Zupan, A, Alembik, Y, Doray, B, Linglart, A, Mornet, E, Morrier, JJ, Droz, D, Manière, MC
Publikováno v:
Bulletin du GIRSO; Vol. 51 No 1 (2012); e13
Bulletin du GIRSO; Vol. 51 No. 1 (2012): The 6th International Alkaline Phosphatase and Hypophosphatasia Symposium; e13
RCUB. Revistas Científicas de la Universidad de Barcelona
instname
Bulletin du Groupement International pour la Recherche Scientifique en Stomatologie et Odontologie; Vol. 51, No 1 (2012): The 6th International Alkaline Phosphatase and Hypophosphatasia Symposium; e13
Bulletin du GIRSO; Vol. 51 No. 1 (2012): The 6th International Alkaline Phosphatase and Hypophosphatasia Symposium; e13
RCUB. Revistas Científicas de la Universidad de Barcelona
instname
Bulletin du Groupement International pour la Recherche Scientifique en Stomatologie et Odontologie; Vol. 51, No 1 (2012): The 6th International Alkaline Phosphatase and Hypophosphatasia Symposium; e13
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1611387b605a6435bbeaeb274c1d0cde
https://revistes.ub.edu/index.php/bullgirso/article/view/6087
https://revistes.ub.edu/index.php/bullgirso/article/view/6087
Autor:
Leroy, C., Jacquemont, M.‐L., Doray, B., Lamblin, D., Cormier‐Daire, V., Philippe, A., Nusbaum, S., Patrat, C., Steffann, J., Colleaux, L., Vekemans, M., Romana, S., Turleau, C., Malan, V.
Publikováno v:
Clinical Genetics; Jan2016, Vol. 89 Issue 1, p68-73, 6p
Autor:
Aliferis, K., Marsal, C., Pelletier, V., Doray, B., Weiss, M.M., Tops, C.M.J., Speeg-Schatz, C., Lesnik, S.A.J., Dollfus, H.
Publikováno v:
Ophthalmic Genetics; Dec2010, Vol. 31 Issue 4, p205-208, 4p, 1 Black and White Photograph, 1 Chart
Akademický článek
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Autor:
Nadège Gigot, Anne Dieux, Yannis Duffourd, Bernard Aral, Lydie Burglen, Bérénice Doray, Olivier Rosnet, Alice Goldenberg, Martijn A. Huynen, Oliver E. Blacque, Brunella Franco, André Mégarbané, Diane Doummar, Ernie M.H.F. Bongers, Anne Fargeot-Espaliat, Clarisse Baumann, Judith St-Onge, Daniel Birnbaum, Sophie Saunier, Thibaut Eguether, Jean-François Deleuze, Estelle Lopez, Dominique Gaillard, Geneviève Pierquin, Shubha R. Phadke, Michel R. Leroux, Rachel H. Giles, Tania Attié-Bitach, Jaclyn S. Goldstein, Isabelle Desguerres, Elisabeth Steichen-Gersdorf, Brigitte Gilbert-Dussardier, Manuela Morleo, Jesús Argente, Jean Baptiste Rivière, Gregory J. Pazour, Christel Thauvin-Robinet, Julien Thevenon, Albert David, Maxence V. Nachury, Laurence Faivre, Philippe Loget, Véronique Chevrier, Bruno Reversade, Laurence Jego, Ange Line Bruel, Vicente Herranz-Pérez, Laurent Pasquier, Colin A. Johnson, John B. Wallingford, Valérie Cormier-Daire, Inusha Panigrahi
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2017, 54 (6), pp.371-380. ⟨10.1136/jmedgenet-2016-104436⟩
Bruel, A-L; Franco, B; Duffourd, Y; Thevenon, J; Jego, L; Lopez, E; et al.(2017). Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. JOURNAL OF MEDICAL GENETICS, 54(6), 371-380. doi: 10.1136/jmedgenet-2016-104436. UCSF: Retrieved from: http://www.escholarship.org/uc/item/6vw2q34w
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (6), pp.371-380. 〈10.1136/jmedgenet-2016-104436〉
JOURNAL OF MEDICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (6), pp.371-380. ⟨10.1136/jmedgenet-2016-104436⟩
Journal of Medical Genetics, 54, 6, pp. 371-380
Journal of Medical Genetics, 54, 371-380
Journal of Medical Genetics, 2017, 54 (6), pp.371-380. ⟨10.1136/jmedgenet-2016-104436⟩
Bruel, A-L; Franco, B; Duffourd, Y; Thevenon, J; Jego, L; Lopez, E; et al.(2017). Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. JOURNAL OF MEDICAL GENETICS, 54(6), 371-380. doi: 10.1136/jmedgenet-2016-104436. UCSF: Retrieved from: http://www.escholarship.org/uc/item/6vw2q34w
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (6), pp.371-380. 〈10.1136/jmedgenet-2016-104436〉
JOURNAL OF MEDICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (6), pp.371-380. ⟨10.1136/jmedgenet-2016-104436⟩
Journal of Medical Genetics, 54, 6, pp. 371-380
Journal of Medical Genetics, 54, 371-380
Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e3936f44f5b3a91a3dfb197d651c272
https://doi.org/10.1136/jmedgenet-2016-104436
https://doi.org/10.1136/jmedgenet-2016-104436
Autor:
N. Méjean, Nadège Gigot, Lydie Burglen, Estelle Lopez, Valérie Cormier-Daire, Didier Lacombe, Christel Thauvin-Robinet, John Dean, Marie Gonzales, Diana Rodriguez, Brunella Franco, Bérénice Doray, Melissa Crenshaw, Isabelle Desguerres, Patrick Callier, Laurent Pasquier, Tania Attié-Bitach, Frédéric Huet, Bernard Aral, Matthew Pastore, Véronique Darmency-Stamboul, Laurence Faivre
Oral-facial-digital syndrome type VI (OFD VI) is characterized by the association of malformations of the face, oral cavity and extremities, distinguished from the 12 other OFD syndromes by cerebellar and metacarpal abnormalities. Cerebellar malforma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6468fc59250ebe607afef89232b3052d
http://hdl.handle.net/11588/560299
http://hdl.handle.net/11588/560299