المؤلفون: Mantovani, G, Bastepe, M, Monk, D, de Sanctis, L, Thiele, S, Ahmed, SF, Bufo, R, Choplin, T, De Filippo, G, Devernois, G, Eggermann, T, Elli, FM, Ramirez, AG, Germain-Lee, EL, Groussin, L, Hamdy, NAT, Hanna, P, Hiort, O, Juppner, H, Kamenicky, P, Knight, N, Le Norcy, E, Lecumberri, B, Levine, MA, Makitie, O, Martin, R, Martos-Moreno, GA, Minagawa, M, Murray, P, Pereda, A, Pignolo, R, Rejnmark, L, Rodado, R, Rothenbuhler, A, Saraff, V, Shoemaker, AH, Shore, EM, Silve, C, Turan, S, Woods, P, Zillikens, MC, de Nanclares, GP, Linglart, A

المصدر: Hormone research in paediatrics. 93(3):182-196

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:144647755Test

المؤلفون: Mantovani, G, Bastepe, M, Monk, D, de Sanctis, L, Thiele, S, Usardi, A, Ahmed, SF, Bufo, R, Choplin, T, De Filippo, G, Devernois, G, Eggermann, T, Elli, FM, Freson, K, Ramirez, AG, Germain-Lee, EL, Groussin, L, Hamdy, N, Hanna, P, Hiort, O, Juppner, H, Kamenicky, P, Knight, N, Kottler, ML, Le Norcy, E, Lecumberri, B, Levine, MA, Makitie, O, Martin, R, Martos-Moreno, GA, Minagawa, M, Murray, P, Pereda, A, Pignolo, R, Rejnmark, L, Rodado, R, Rothenbuhler, A, Saraff, V, Shoemaker, AH, Shore, EM, Silve, C, Turan, S, Woods, P, Zillikens, MC, de Nanclares, GP, Linglart, A

المصدر: Nature reviews. Endocrinology. 14(8):476-500

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:138739515Test

المؤلفون: Kayumi, S, Perez-Jurado, LA, Palomares, M, Rangu, S, Sheppard, SE, Chung, WK, Kruer, MC, Kharbanda, M, Amor, DJ, McGillivray, G, Cohen, JS, Garcia-Minaur, S, van Eyk, CL, Harper, K, Jolly, LA, Webber, DL, Barnett, CP, Santos-Simarro, F, Pacio-Miguez, M, del Pozo, A, Bakhtiari, S, Deardorff, M, Dubbs, HA, Izumi, K, Grand, K, Gray, C, Mark, PR, Bhoj, EJ, Li, D, Ortiz-Gonzalez, XR, Keena, B, Zackai, EH, Goldberg, EM, de Nanclares, GP, Pereda, A, Llano-Rivas, I, Arroyo, I, Fernandez-Cuesta, MA, Thauvin-Robinet, C, Faivre, L, Garde, A, Mazel, B, Bruel, A-L, Tress, ML, Brilstra, E, Fine, AS, Crompton, KE, Stegmann, APA, Sinnema, M, Stevens, SCJ, Nicolai, J, Lesca, G, Lion-Francois, L, Haye, D, Chatron, N, Piton, A, Nizon, M, Cogne, B, Srivastava, S, Bassetti, J, Muss, C, Gripp, KW, Procopio, RA, Millan, F, Morrow, MM, Assaf, M, Moreno-De-Luca, A, Joss, S, Hamilton, MJ, Bertoli, M, Foulds, N, McKee, S, MacLennan, AH, Gecz, J, Corbett, MA

العلاقة: pii: S1098-3600(22)00897-8; Kayumi, S., Perez-Jurado, L. A., Palomares, M., Rangu, S., Sheppard, S. E., Chung, W. K., Kruer, M. C., Kharbanda, M., Amor, D. J., McGillivray, G., Cohen, J. S., Garcia-Minaur, S., van Eyk, C. L., Harper, K., Jolly, L. A., Webber, D. L., Barnett, C. P., Santos-Simarro, F., Pacio-Miguez, M. ,. Corbett, M. A. (2022). Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants. GENETICS IN MEDICINE, 24 (11), pp.2351-2366. https://doi.org/10.1016/j.gim.2022.08.006Test.; http://hdl.handle.net/11343/322233Test

الإتاحة: https://doi.org/10.1016/j.gim.2022.08.006Test
http://hdl.handle.net/11343/322233Test

المؤلفون: Hanna P, Grybek V, de Nanclares GP, Tran LC, de Sanctis L, Elli F, Errea J, Francou B, Kamenicky P, Linglart L, Pereda A, Rothenbuhler A, Tessaris D, Thiele S, Usardi A, Shoemaker AH, Kottler ML, Jüppner H, Mantovani G, Linglart A.

المساهمون: P. Hanna, V. Grybek, G. de Nanclare, L. Tran, L. de Sancti, F. Elli, J. Errea, B. Francou, P. Kamenicky, L. Linglart, A. Pereda, A. Rothenbuhler, D. Tessari, S. Thiele, A. Usardi, A. Shoemaker, M. Kottler, H. Jüppner, G. Mantovani, A. Linglart

مصطلحات موضوعية: pseudohypoparathyroidism, pseudopseudohypoparathyroidism, gna, early-onset obesity, growth, Settore MED/13 - Endocrinologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29693731; info:eu-repo/semantics/altIdentifier/wos/WOS:000441130200013; volume:33; issue:8; firstpage:1480; lastpage:1488; numberofpages:9; journal:JOURNAL OF BONE AND MINERAL RESEARCH; http://hdl.handle.net/2434/576152Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85051282801

الإتاحة: https://doi.org/10.1002/jbmr.3450Test
http://hdl.handle.net/2434/576152Test

المؤلفون: Sierra-Torre, Pampliega O, Ortiz-Zarragoitia M, Castellanos Eb, Igor Aurrekoetxea, Basaras M, Bozal-Leorri A, Unai Galicia-Garcia, Baleriola J, Maialen Sebastian-delaCruz, Asier Benito-Vicente, Ramirez-Garcia A, Aitor Rementeria, Marín-Peña A, Daniel Marino, Ane Olazagoitia-Garmendia, Sierra A, Rueda-Alaña E, Torrano, Marcos S, Leire Aparicio-Fernandez, Nora Fernandez-Jimenez, de Nanclares Gp, Buqué X, Bilbao, Guruceaga X, Patricia Aspichueta, Itziar Gonzalez-Moro, Ugo Mayor, Mendoza Lm, Areitio M, Iraia García-Santisteban, Leire Martin-Souto, Uxue Perez-Cuesta, Ainhoa Iglesias-Ara, Bernal-Chico A, Alegre Sa, Maier Lorizate, Izortze Santin, Ainara Castellanos-Rubio, Vallejo-Rodríguez J, Teresa Fuertes-Mendizábal, Serrano-Regal Mp, Tønnesen J, Irantzu Bernales, Cavaliere F, Gaminde-Blasco A, Jon Ander Nieto-Garai, César Martín

مصطلحات موضوعية: Test strategy, Protocol (science), Computer science, business.industry, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), RNA, Machine learning, computer.software_genre, Patient confidentiality, Policy decision, Viral rna, RNA extraction, Artificial intelligence, business, computer

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7d1004a565a76cb8d38e31b57e6f953Test

المؤلفون: Linglart A, Mantovani G, Garin I, Usardi A, Elli FM, de Nanclares GP.

المساهمون: A. Linglart, G. Mantovani, I. Garin, A. Usardi, F. Elli, G. de Nanclares

مصطلحات موضوعية: networking, Pseudohypoparathyroidism, Settore MED/13 - Endocrinologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29292871; info:eu-repo/semantics/altIdentifier/wos/WOS:000417662600006; volume:15; issue:Suppl. 1; firstpage:92; lastpage:97; numberofpages:6; journal:PEDIATRIC ENDOCRINOLOGY REVIEW; http://hdl.handle.net/2434/576133Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85067127317

الإتاحة: https://doi.org/10.17458/per.vol15.2017.lmg.pseudohypoparathyroidismTest
http://hdl.handle.net/2434/576133Test

المؤلفون: Perez-Nanclares G, Romanelli V, Mayo S, Garin I, Zazo C, Fernandez-Rebollo E, MARTINEZ, F., Lapunzina P, de Nanclares GP, Spanish PHP Group

المصدر: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::2ed14cead968de4f896e270463387a34Test
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1989Test

المؤلفون: Esmatjes E, Jimenez A, Diaz G, Mora M, Casamitjana R, De Nanclares GP, Castaño L, Ricart MJ, Esmatjes, Enric, Jimenez, Amanda, Diaz, Gonzalo, Mora, Mireia, Casamitjana, Roser, Pérez de Nanclares, G, Castaño, Luis, José Ricart, Maria

المصدر: Diabetes Care; Nov2008, Vol. 31 Issue 11, p2116-2117, 2p