المؤلفون: Llerena, Juan, Rosselli, Pablo, Aragão, Amanda, Valenzuela, Cristina, Bertola, Debora, Mendez, Yaneth, del Pino, Mariana, Calvacanti, Nicolette, Thomazinho, Paula, Pimenta, Jeanne M., Cohen, Shelda, Butt, Tom, Thomaz, José C., Shediac, Renée, Rowell, Richard, Magalhães, Tatiana SPC., Kim, Chong, Fano, Virginia

المصدر: Genetics in Medicine Open ; page 100843 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2023.100843Test
https://api.elsevier.com/content/article/PII:S294977442300852X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S294977442300852X?httpAccept=text/plainTest

المؤلفون: Llerena, Juan, Fano, Virginia, Rosselli, Pablo, del Pino, Mariana, Valenzuela, Cristina, Méndez, Janeth, Cavalcanti, Nicolette, Thomazinho, Paula, Aragão, Amanda, Thomaz, José, Butt, Tom, Rowell, Richard, Pimenta, Jeanne, Cohen, Shelda, Shediac, Renée, Magalhães, Tatiana, Bertola, Debora, Kim, Chong

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100261 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2023.100261Test
https://api.elsevier.com/content/article/PII:S2949774423002613?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423002613?httpAccept=text/plainTest

المؤلفون: Cavalcanti, Denise P., Fano, Virginia, Mellado Sagredo, Cecilia Ximena Del Carmen, Lacarrubba‐Flores, María Dora, Silveira, Cynthia, Silveira, Karina C., Pino, Mariana del, Moresco, Angélica, Caino, Silvia, Ramos Mejía, Rosario, García B., Cristián, Lay-Son Rodríguez, Guillermo Roberto, Ferreira, Carlos F.

مصطلحات موضوعية: Achondroplasia, Dysostosis, Latin America, Osteogenesis imperfecta, Skeletal dysplasias, Telemedicine, Medicina y salud

الوقت: 610

العلاقة: https://doi.org/10.1002/ajmg.c.31861Test; https://repositorio.uc.cl/handle/11534/80621Test

الإتاحة: https://doi.org/10.1002/ajmg.c.31861Test
https://repositorio.uc.cl/handle/11534/80621Test

المؤلفون: Ramos‐Mejía, Rosario, Heath, Karen E., Modamio‐Høybjør, Silvia, Huckstadt, Victoria, Calcagni, Julián, Remondino, Rodrigo, Fano, Virginia

المصدر: American Journal of Medical Genetics. Part A; Mar2024, Vol. 194 Issue 3, p1-4, 4p

المؤلفون: Caino, Silvia, Cubilla, Marisa Angelica, Alba, Romina, Obregón, María Gabriela, Fano, Virginia, Gómez, Abel, Zecchini, Lorena del Valle, Lapunzina, Pablo, Aza Carmona, Miriam, Heath, Karen E., Asteggiano, Carla Gabriela

المصدر: Caino, Silvia orcid:0000-0002-2602-0793 , Cubilla, Marisa Angelica orcid:0000-0002-9862-8933 , Alba, Romina orcid:0000-0003-1324-8972 , Obregón, María Gabriela orcid:0000-0001-7129-8009 , Fano, Virginia orcid:0000-0003-3311-2220 , Gómez, Abel, Zecchini, Lorena del Valle orcid:0000-0002-2284-3266 , Lapunzina, Pablo orcid:0000-0002-6324-4825 , Aza Carmona, Miriam orcid:0000-0003-4448-9541 , Heath, Karen E. orcid:0000-0002-5816-7044 and Asteggiano, Carla Gabriela orcid:0000-0003-4713-2775 (2022) Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients. Genes (13).

مصطلحات موضوعية: R Medicina (General)

وصف الملف: application/pdf

العلاقة: http://pa.bibdigital.ucc.edu.ar/3684/1/A_Caino_Cubilla_Alba_Obreg%C3%B3n_Fano_G%C3%B3mez_Zecchini_Lapunzina_AzaCarmona_Heath_Asteggiano.pdfTest

الإتاحة: http://pa.bibdigital.ucc.edu.ar/3684Test/
https://www.mdpi.com/2073-4425/13/11/2063Test
http://pa.bibdigital.ucc.edu.ar/3684/1/A_Caino_Cubilla_Alba_Obreg%C3%B3n_Fano_G%C3%B3mez_Zecchini_Lapunzina_AzaCarmona_Heath_Asteggiano.pdfTest

المؤلفون: Llerena, Juan, Kim, Chong Ae, Fano, Virginia, Rosselli, Pablo, Collett-Solberg, Paulo Ferrez, de Medeiros, Paula Frassinetti Vasconcelos, del Pino, Mariana, Bertola, Débora, Lourenço, Charles Marques, Cavalcanti, Denise Pontes, Félix, Têmis Maria, Rosa-Bellas, Antonio, Rossi, Norma Teresa, Cortes, Fanny, Abreu, Flávia, Cavalcanti, Nicolette, Ruz, Maria Cecilia Hervias, Baratela, Wagner

المصدر: BMC Pediatrics ; volume 22, issue 1 ; ISSN 1471-2431

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1186/s12887-022-03505-wTest

المؤلفون: Fano, Virginia, Kim, Chong A., Rosselli, Pablo, Dib, Regina El, Shediac, Renée, Magalhães, Tatiana, Mesojedovas, Debora, Llerena, Juan

المساهمون: BioMarin Pharmaceutical

المصدر: Orphanet Journal of Rare Diseases ; volume 17, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-021-02142-3Test

المؤلفون: Savarirayan, Ravi, Ireland, Penny, Irving, Melita, Thompson, Dominic, Alves, Inês, Baratela, Wagner A R, Betts, James, Bober, Michael B, Boero, Silvio, Briddell, Jenna, Campbell, Jeffrey, Campeau, Philippe M, Carl-Innig, Patricia, Cheung, Moira S, Cobourne, Martyn, Cormier-Daire, Valérie, Deladure-Molla, Muriel, Del Pino, Mariana, Elphick, Heather, Fano, Virginia, Fauroux, Brigitte, Gibbins, Jonathan, Groves, Mari L, Hagenäs, Lars, Hannon, Therese, Hoover-Fong, Julie, Kaisermann, Morrys, Leiva-Gea, Antonio, Llerena, Juan, Mackenzie, William, Martin, Kenneth, Mazzoleni, Fabio, McDonnell, Sharon, Meazzini, Maria Costanza, Milerad, Josef, Mohnike, Klaus, Mortier, Geert R, Offiah, Amaka, Ozono, Keiichi, Phillips, John A, Powell, Steven, Prasad, Yosha, Raggio, Cathleen, Rosselli, Pablo, Rossiter, Judith, Selicorni, Angelo, Sessa, Marco, Theroux, Mary, Thomas, Matthew, Trespedi, Laura, Tunkel, David, Wallis, Colin, Wright, Michael, Yasui, Natsuo, Fredwall, Svein Otto

مصطلحات موضوعية: Achondroplasia, Consensus, Humans, Mutation, Osteogenesis, Quality of Life, Receptor, Fibroblast Growth Factor, Type 3

العلاقة: http://hdl.handle.net/10668/19565Test; https://www.nature.com/articles/s41574-021-00595-x.pdfTest

الإتاحة: https://doi.org/10.1038/s41574-021-00595-xTest
http://hdl.handle.net/10668/19565Test
https://www.nature.com/articles/s41574-021-00595-x.pdfTest

المؤلفون: Hoover-Fong, Julie, Cheung, Moira S., Fano, Virginia, Hagenas, Lars, Hecht, Jacqueline T., Ireland, Penny, Irving, Melita, Mohnike, Klaus, Offiah, Amaka C., Okenfuss, Ericka, Ozono, Keiichi, Raggio, Cathleen, Tofts, Louise, Kelly, Dominique, Shediac, Renée, Pan, Wayne, Savarirayan, Ravi

المساهمون: Pfizer, BioMarin Pharmaceutical, Osteogenesis Imperfecta Foundation

المصدر: Bone ; volume 146, page 115872 ; ISSN 8756-3282

مصطلحات موضوعية: Histology, Physiology, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.bone.2021.115872Test
https://api.elsevier.com/content/article/PII:S875632822100034X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S875632822100034X?httpAccept=text/plainTest

المؤلفون: del Pino, Mariana, Fano, Virginia

المصدر: American Journal of Medical Genetics. Part A; Feb2024, Vol. 194 Issue 2, p394-396, 3p