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1دورية أكاديمية
المؤلفون: Altunoglu, Umut, Palencia-Campos, Adrian, Güneş, Nilay, Turgut, Gozde Tutku, Nevado, Julian, Lapunzina, Pablo, Valencia, Maria, Iturrate, Asier, Otaify, Ghada, Elhossini, Rasha, Ashour, Adel, K. Amin, Asmaa, Elnahas, Rania F, Fernandez-Nuñez, Elisa, Flores, Carmen-Lisset, Arias, Pedro, Tenorio, Jair, Chamorro Fernández, Carlos Israel, Güven, Yeliz, Özsu, Elif, Eklioğlu, Beray Selver, Ibarra-Ramirez, Marisol, Diness, Birgitte Rode, Burnyte, Birute, Ajmi, Houda, Yüksel, Zafer, Yıldırım, Ruken, Ünal, Edip, Abdalla, Ebtesam, Aglan, Mona, Kayserili, Hulya, Tuysuz, Beyhan, Ruiz-Pérez, Victor
المساهمون: FEDER funds through ISCIII, Spanish Ministry of Economy and Competitiveness
المصدر: Journal of Medical Genetics ; volume 61, issue 7, page 633-644 ; ISSN 0022-2593 1468-6244
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2دورية أكاديمية
المؤلفون: Iturrate, Asier, Rivera-Barahona, Ana, Flores, Carmen-Lisset, Otaify, Ghada A., Elhossini, Rasha, Perez-Sanz, Marina L., Nevado, Julián, Tenorio-Castano, Jair, Triviño, Juan Carlos, Garcia-Gonzalo, Francesc R., Piceci-Sparascio, Francesca, De Luca, Alessandro, Martínez, Leopoldo, Kalaycı, Tugba, Lapunzina, Pablo, Altunoglu, Umut, Aglan, Mona, Abdalla, Ebtesam, Ruiz-Perez, Victor L.
المساهمون: National Human Genome Research Institute, National Institute of Mental Health, National Cancer Institute, National Institute on Drug Abuse, National Institute of Neurological Disorders and Stroke, Gobierno de España Ministerio de Ciencia e Innovación, National Institutes of Health, Ministerio de Ciencia e Innovación, National Heart, Lung, and Blood Institute
المصدر: The American Journal of Human Genetics ; volume 109, issue 10, page 1828-1849 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2022.08.009Test
https://api.elsevier.com/content/article/PII:S0002929722003615?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929722003615?httpAccept=text/plainTest -
3دورية أكاديمية
المؤلفون: Kague, Erika, Turci, Francesco, Newman, Elis, Yang, Yushi, Brown, Kate Robson, Aglan, Mona S., Otaify, Ghada A., Temtamy, Samia A., Ruiz-Perez, Victor L., Cross, Stephen, Royall, C. Patrick, Witten, Paul Eckhard, Hammond, Chrissy L.
المصدر: BONE RESEARCH ; ISSN: 2095-4700 ; ISSN: 2095-6231
مصطلحات موضوعية: Biology and Life Sciences, MINERAL DENSITY, OSTEOGENESIS IMPERFECTA, GENETIC-FACTORS, OSTEOPOROSIS, OSTERIX, OSTEOARTHRITIS, FRACTURES, IMAGE, DIFFERENTIATION, METAANALYSIS
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/8757030Test; http://hdl.handle.net/1854/LU-8757030Test; http://dx.doi.org/10.1038/s41413-021-00156-yTest; https://biblio.ugent.be/publication/8757030/file/8772872Test
الإتاحة: https://doi.org/10.1038/s41413-021-00156-yTest
https://biblio.ugent.be/publication/8757030Test
http://hdl.handle.net/1854/LU-8757030Test
https://biblio.ugent.be/publication/8757030/file/8772872Test -
4دورية أكاديمية
المؤلفون: Mohamed, Amal M., Kamel, Alaa K., Eid, Maha M., Eid, Ola M., Mekkawy, Mona, Hussein, Shymaa H., Zaki, Maha S., Esmail, Samira, Afifi, Hanan H., El‐Kamah, Ghada Y., Otaify, Ghada A., El‐Awady, Heba Ahmed, Elaidy, Aya, Essa, Mahmoud Y., El‐Ruby, Mona, Ashaat, Engy A., Hammad, Saida A., Mazen, Inas, Abdel‐Salam, Ghada M. H., Aglan, Mona, Temtamy, Samia
المصدر: Molecular Genetics & Genomic Medicine ; volume 9, issue 11 ; ISSN 2324-9269 2324-9269
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5دورية أكاديمية
المؤلفون: Thomas, Manal M., Ashaat, Engy A., Otaify, Ghada A., Ismail, Samira, Essawi, Mona L., Abdel-Hamid, Mohamed S., Hassan, Heba A., Alsaiedi, Sonia A., Aglan, Mona, El Ruby, Mona O., Temtamy, Samia
المصدر: Molecular Syndromology ; volume 12, issue 5, page 279-288 ; ISSN 1661-8769 1661-8777
مصطلحات موضوعية: Genetics (clinical), Genetics
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6دورية أكاديمية
المؤلفون: Horn, Denise, Fernández-Núñez, Elisa, Gomez-Carmona, Ricardo, Rivera-Barahona, Ana, Nevado, Julian, Schwartzmann, Sarina, Ehmke, Nadja, Lapunzina, Pablo, Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Boschann, Felix, Ruiz-Perez, Victor L.
المصدر: Genetics in Medicine ; volume 23, issue 4, page 679-688 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1038/s41436-020-01052-2Test
http://www.nature.com/articles/s41436-020-01052-2.pdfTest
http://www.nature.com/articles/s41436-020-01052-2Test
https://api.elsevier.com/content/article/PII:S1098360021024631?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021024631?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: Besio, Roberta, Garibaldi, Nadia, Leoni, Laura, Cipolla, Lina, Sabbioneda, Simone, Biggiogera, Marco, Mottes, Monica, Aglan, Mona, Otaify, Ghada A, Temtamy, Samia A, Rossi, Antonio, Forlino, Antonella
المساهمون: Besio, Roberta, Garibaldi, Nadia, Leoni, Laura, Cipolla, Lina, Sabbioneda, Simone, Biggiogera, Marco, Mottes, Monica, Aglan, Mona, Otaify, Ghada A, Temtamy, Samia A, Rossi, Antonio, Forlino, Antonella
مصطلحات موضوعية: Chemical chaperone, Collagen, Endoplasmic reticulum stre, Osteogenesis imperfecta, Unfolded protein response
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31171565; info:eu-repo/semantics/altIdentifier/wos/WOS:000473480900005; volume:12; issue:6; firstpage:1; lastpage:14; numberofpages:14; journal:DISEASE MODELS & MECHANISMS; http://hdl.handle.net/11562/996232Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068537927; https://doi.org/10.1242/dmm.038521Test
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8دورية أكاديمية
المؤلفون: Palencia-Campos, Adrian, Aoto, Phillip C., Machal, Erik M.F., Rivera-Barahona, Ana, Soto-Bielicka, Patricia, Bertinetti, Daniela, Baker, Blaine, Vu, Lily, Piceci-Sparascio, Francesca, Torrente, Isabella, Boudin, Eveline, Peeters, Silke, Van Hul, Wim, Huber, Celine, Bonneau, Dominique, Hildebrand, Michael S., Coleman, Matthew, Bahlo, Melanie, Bennett, Mark F., Schneider, Amy L., Scheffer, Ingrid E., Kibæk, Maria, Kristiansen, Britta S., Issa, Mahmoud Y., Mehrez, Mennat I., Ismail, Samira, Tenorio, Jair, Li, Gaoyang, Skålhegg, Bjørn Steen, Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Jønch, Aia E., De Luca, Alessandro, Mortier, Geert, Cormier-Daire, Valérie, Ziegler, Alban, Wallis, Mathew, Lapunzina, Pablo, Herberg, Friedrich W., Taylor, Susan S., Ruiz-Perez, Victor L.
المصدر: Palencia-Campos , A , Aoto , P C , Machal , E M F , Rivera-Barahona , A , Soto-Bielicka , P , Bertinetti , D , Baker , B , Vu , L , Piceci-Sparascio , F , Torrente , I , Boudin , E , Peeters , S , Van Hul , W , Huber , C , Bonneau , D , Hildebrand , M S , Coleman , M , Bahlo , M , Bennett , M F , Schneider , A L , Scheffer , I E , Kibæk , M , Kristiansen , B ....
مصطلحات موضوعية: cAMP signaling, congenital heart defects, Ellis-van Creveld syndrome, GLI transcritpion factors, hedgehog signaling, mosaicism, PKA, postaxial polydactyly, PRKACA, PRKACB
العلاقة: https://portal.findresearcher.sdu.dk/da/publications/7636c748-a80a-4af6-9ec7-5927f4766962Test
الإتاحة: https://doi.org/10.1016/j.ajhg.2020.09.005Test
https://portal.findresearcher.sdu.dk/da/publications/7636c748-a80a-4af6-9ec7-5927f4766962Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7675002/pdf/main.pdfTest -
9دورية أكاديمية
المؤلفون: Otaify, Ghada A., Elhossini, Rasha M., Abdel‐Ghafar, Sherif F., Sayed, Inas M., Abdel‐Salam, Ghada M. H., Aglan, Mona S., Abdel‐Hamid, Mohamed S.
المصدر: American Journal of Medical Genetics. Part A; Aug2023, Vol. 191 Issue 8, p2100-2112, 13p
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10دورية أكاديمية
المؤلفون: Estañ, María Cristina, Fernández-Núñez, Elisa, Zaki, Maha S., Esteban, María Isabel, Donkervoort, Sandra, Hawkins, Cynthia, Caparros-Martin, José A., Saade, Dimah, Hu, Ying, Bolduc, Véronique, Chao, Katherine Ru Yui, Nevado, Julián, Lamuedra, Ana, Largo, Raquel, Herrero-Beaumont, Gabriel, Regadera, Javier, Hernandez-Chico, Concepción, Tizzano, Eduardo F., Martinez-Glez, Victor, Carvajal, Jaime J., Zong, Ruiting, Nelson, David L., Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Issa, Mahmoud, Bönnemann, Carsten G., Lapunzina, Pablo, Yoon, Grace, Ruiz-Perez, Victor L.
المساهمون: UAM. Departamento de Anatomía, Histología y Neurociencia, UAM. Departamento de Medicina, Instituto de Investigaciones Biomédicas "Alberto Sols" (IIBM), Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD), Instituto de Investigación Sanitaria Hospital Universitario de La Paz (IdiPAZ)
وصف الملف: application/pdf
العلاقة: Nature Communications; https://doi.org/10.1038/s41467-019-08548-9Test; Gobierno de España. SAF2013-43365- R; Gobierno de España. SAF2016-75434-R; Nature Communications 10.1 (2019): 797; http://hdl.handle.net/10486/688388Test; 797-1; 797-19; 10
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