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

الإتاحة: https://doi.org/10.1136/jmg-2023-109546Test

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

المؤلفون: El Dessouki, Dina, Rady, Hanaa M., Kholoussi, Naglaa, Amr, Khalda, Temtamy, Samia A., Aglan, Mona, Abdou, Manal M.S.

المساهمون: Science and Technology Development Fund, National Research Centre

المصدر: The Egyptian Rheumatologist ; volume 44, issue 4, page 361-365 ; ISSN 1110-1164

مصطلحات موضوعية: Rheumatology

الإتاحة: https://doi.org/10.1016/j.ejr.2022.07.004Test
https://api.elsevier.com/content/article/PII:S1110116422000965?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1110116422000965?httpAccept=text/plainTest

المؤلفون: Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S, Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K, Scott, Eric M, Silhavy, Jennifer L, Schroth, Jana, Copeland, Brett, Schaffer, Ashleigh E, Gordts, Philip LSM, Esko, Jeffrey D, Buschman, Matthew D, Field, Seth J, Napolitano, Gennaro, Abdel-Salam, Ghada M, Ozgul, R Koksal, Sagıroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Mahmoud, Iman G, Abdel-Hadi, Sawsan, Badawy, Amera El, Sadek, Abdelrahim A, Mojahedi, Faezeh, Kayserili, Hulya, Masri, Amira, Bastaki, Laila, Temtamy, Samia, Müller, Ulrich, Desguerre, Isabelle, Casanova, Jean-Laurent, Dursun, Ali, Gunel, Murat, Gabriel, Stacey B, de Lonlay, Pascale, Gleeson, Joseph G

المصدر: Nature Genetics. 47(5)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Brain Disorders, Clinical Research, Animals, Atrophy, Autophagy, Cerebellar Diseases, Cerebellum, Child, Preschool, Female, Gene Frequency, Humans, Infant, Lod Score, Lysosomal Storage Diseases, Lysosomes, Male, Mutation, Phagosomes, Sorting Nexins, Spinocerebellar Ataxias, Syndrome, Zebrafish, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology, Genetics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/57n4q5z6Test

المؤلفون: Elhossini, Rasha M., Sayed, Inas M., Hellal, Usama Saad, Mahmoud, Sarah A. M., Aglan, Mona S., Hassib, Nehal F., Abdel‐Hamid, Mohamed S.

المصدر: American Journal of Medical Genetics. Part A; Jan2024, Vol. 194 Issue 1, p39-45, 7p

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

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

الإتاحة: https://doi.org/10.1002/mgg3.1829Test

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

الإتاحة: https://doi.org/10.1159/000516607Test
https://www.karger.com/Article/Pdf/516607Test

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

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

الإتاحة: https://doi.org/10.1242/dmm.038521Test
http://hdl.handle.net/11562/996232Test