المؤلفون: Zeitz, Christina, Navarro, Julien, Azizzadeh Pormehr, Leila, Méjécase, Cécile, Neves, Luiza M., Letellier, Camille, Condroyer, Christel, Albadri, Shahad, Amprou, Andréa, Antonio, Aline, Ben-Yacoub, Tasnim, Wohlschlegel, Juliette, Andrieu, Camille, Serafini, Malo, Bianco, Lorenzo, Antropoli, Alessio, Nassisi, Marco, El Shamieh, Said, Chantot-Bastaraud, Sandra, Mohand-Saïd, Saddek, Smirnov, Vasily, Sahel, José-Alain, Del Bene, Filippo, Audo, Isabelle

المساهمون: Foundation Fighting Blindness Inc, Agence nationale de la recherche, Fondation pour la Recherche Medicale, Retina France, UNADEV, MESR

المصدر: Genetics in Medicine ; page 101081 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2024.101081Test
https://api.elsevier.com/content/article/PII:S1098360024000145?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360024000145?httpAccept=text/plainTest

المؤلفون: Daher, Ahmad, Banjak, Malak, Noureldine, Jinane, Nehme, Joseph, El Shamieh, Said

المصدر: BMC Ophthalmology; 4/15/2024, Vol. 24 Issue 1, p1-12, 12p

مصطلحات موضوعية: NONSENSE mutation, GENETIC models, GENETIC mutation, MISSENSE mutation, OPTIC disc, GAIN-of-function mutations, FILAGGRIN

المؤلفون: Jaffal, Lama, Mrad, Zamzam, Ibrahim, Mariam, Salami, Ali, Audo, Isabelle, Zeitz, Christina, El Shamieh, Said

المساهمون: Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), ANR-18-IAHU-0001,FOReSIGHT,Enabling Vision Restoration(2018)

المصدر: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://cnrs.hal.science/hal-03954594Test ; Orphanet Journal of Rare Diseases, 2022, 17, ⟨10.1186/s13023-022-02318-5⟩.

مصطلحات موضوعية: Rod-cone dystrophy Research output Human development index Next-generation sequencing, Rod-cone dystrophy, Research output, Human development index, Next-generation sequencing, [SDV]Life Sciences [q-bio]

العلاقة: hal-03954594; https://cnrs.hal.science/hal-03954594Test; https://cnrs.hal.science/hal-03954594/documentTest; https://cnrs.hal.science/hal-03954594/file/Jaffal_research%20rod%20cone%20dystrophy_OrphanetJRareDis_2022.pdfTest

الإتاحة: https://doi.org/10.1186/s13023-022-02318-5Test
https://cnrs.hal.science/hal-03954594Test
https://cnrs.hal.science/hal-03954594/documentTest
https://cnrs.hal.science/hal-03954594/file/Jaffal_research%20rod%20cone%20dystrophy_OrphanetJRareDis_2022.pdfTest

المؤلفون: Jaffal, Lama, Akhdar, Hanane, Joumaa, Hawraa, Ibrahim, Mariam, Chhouri, Zahraa, Assi, Alexandre, Helou, Charles, Lee, Hane, Seo, Go Hun, Joumaa, Wissam H., El Shamieh, Said

المساهمون: Université Libanaise

المصدر: Frontiers in Genetics ; volume 13 ; ISSN 1664-8021

الإتاحة: https://doi.org/10.3389/fgene.2022.864228Test

المؤلفون: Maltese, Paolo Enrico, Colombo, Leonardo, Martella, Salvatore, Rossetti, Luca, El Shamieh, Said, Sinibaldi, Lorenzo, Passarelli, Chiara, Coppè, Andrea Maria, Buzzonetti, Luca, Falsini, Benedetto, Chiurazzi, Pietro, Placidi, Giorgio, Tanzi, Benedetta, Bertelli, Matteo, Iarossi, Giancarlo

المصدر: Frontiers in Genetics ; volume 13 ; ISSN 1664-8021

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Medicine

الإتاحة: https://doi.org/10.3389/fgene.2022.914345Test

المؤلفون: El Shamieh, Said, Maltese, Paolo Enrico

المصدر: Frontiers in Genetics ; volume 13 ; ISSN 1664-8021

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Medicine

الإتاحة: https://doi.org/10.3389/fgene.2022.990782Test

المؤلفون: Colombo, Leonardo, Maltese, Paolo, E, Castori, Marco, El Shamieh, Said, Zeitz, Christina, Audo, Isabelle, Zulian, Alessandra, Marinelli, Carla, Benedetti, Sabrina, Costantini, Alisia, Bressan, Simone, Percio, Marcella, Ferri, Paolo, Abeshi, Andi, Bertelli, Matteo, Rossetti, Luca

المساهمون: Università degli Studi di Milano = University of Milan (UNIMI), Magi's Lab, Fondazione Santa Lucia IRCCS, Clinical and Behavioral Neurology IRCCS Santa Lucia, Beirut Arab University Beyrouth, Liban (BAU), Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Alma Mater Studiorum Università di Bologna = University of Bologna (UNIBO), ANR-18-IAHU-0001,FOReSIGHT,Enabling Vision Restoration(2018)

المصدر: ISSN: 0146-0404.

مصطلحات موضوعية: retinitis pigmentosa, Usher syndrome, next-generation sequencing, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie

العلاقة: hal-03142834; https://hal.sorbonne-universite.fr/hal-03142834Test; https://hal.sorbonne-universite.fr/hal-03142834/documentTest; https://hal.sorbonne-universite.fr/hal-03142834/file/i1552-5783-62-2-13_1613039930.66797.pdfTest

الإتاحة: https://doi.org/10.1167/iovs.62.2.13Test
https://hal.sorbonne-universite.fr/hal-03142834Test
https://hal.sorbonne-universite.fr/hal-03142834/documentTest
https://hal.sorbonne-universite.fr/hal-03142834/file/i1552-5783-62-2-13_1613039930.66797.pdfTest

المؤلفون: Mangino, Massimo, Hwang, Shih-Jen, Spector, Timothy, Hunt, Steven, Kimura, Masayuki, Fitzpatrick, Annette, Christiansen, Lene, Petersen, Inge, Elbers, Clara, Harris, Tamara, Chen, Wei, Srinivasan, Sathanur, Kark, Jeremy, Benetos, Athanase, El Shamieh, Said, Visvikis-Siest, Sophie, Christensen, Kaare, Berenson, Gerald, Valdes, Ana, Viñuela, Ana, Garcia, Melissa, Arnett, Donna, Broeckel, Ulrich, Province, Michael, Pankow, James, Kammerer, Candace, Liu, Yongmei, Nalls, Michael, Tishkoff, Sarah, Thomas, Fridtjof, Psaty, Bruce, Bis, Joshua, Taylor, Kent, Smith, Erin, Schork, Nicholas, Levy, Daniel, Aviv, Abraham, Ziv, Elad, Rotter, Jerome

المصدر: Human Molecular Genetics. 21(24)

مصطلحات موضوعية: Genome-Wide Association Study, Humans, Kruppel-Like Transcription Factors, Telomere, Telomere Homeostasis, Telomere-Binding Proteins

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7gz666wrTest
https://escholarship.org/content/qt7gz666wr/qt7gz666wr.pdfTest

المؤلفون: Moussa, Salim, Saleh, Fatima, El Shamieh, Said, Assi, Tarek, Othman, Ahmad, Farhat, Fadi

المصدر: Case Reports in Oncology ; volume 13, issue 1, page 188-192 ; ISSN 1662-6575

مصطلحات موضوعية: Oncology

الإتاحة: https://doi.org/10.1159/000505723Test
https://www.karger.com/Article/Pdf/505723Test

المؤلفون: El Shamieh, Said, Salami, Ali, Stathopoulou, Maria G., Chedid, Pia, Visvikis-Siest, Sophie

المساهمون: Institut National de la Santé et de la Recherche Médicale

المصدر: Clinica Chimica Acta ; volume 509, page 172-176 ; ISSN 0009-8981

مصطلحات موضوعية: Biochemistry (medical), Clinical Biochemistry, Biochemistry, General Medicine

الإتاحة: https://doi.org/10.1016/j.cca.2020.06.020Test
https://api.elsevier.com/content/article/PII:S0009898120302849?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0009898120302849?httpAccept=text/plainTest