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1دورية أكاديمية
المؤلفون: Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A. Gibbs, Ugur Sezerman, Jennifer E. Posey, James R. Lupski, Zeynep Coban-Akdemir
المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)
مصطلحات موضوعية: Exome sequencing, Runs-of-homozygosity, Multilocus pathogenic variation, Neurodevelopmental disorders, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8794
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2دورية أكاديمية
المؤلفون: Davut Pehlivan, Sukru Aras, Daniel G. Glaze, Muharrem Ak, Bernhard Suter, Kathleen J. Motil
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
مصطلحات موضوعية: MECP2 duplication syndrome, Parent-reported outcome, Gastrointestinal health scale, Validity, Reliability, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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3دورية أكاديمية
المؤلفون: Katherine Allison, Mirjana Maletic-Savatic, Davut Pehlivan
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: MeCP2, Rett syndrome, MECP2 duplication syndrome, dosage sensitive disorders, Allelic disorders, gene based therapies, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديميةGeneration of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome
المؤلفون: Danielle Mendonca, Gerarda Cappuccio, Jennifer Sheppard, Magdalena Delacruz, Jesse Bengtsson, Claudia M.B. Carvalho, Aleksandar Bajic, Hyekyung Park, Jean J. Kim, Paymaan Jafar-Nejad, Christine Coquery, Davut Pehlivan, Bernhard Suter, Mirjana Maletic-Savatic
المصدر: Stem Cell Research, Vol 74, Iss , Pp 103292- (2024)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Zeynep Coban-Akdemir, Xiaofei Song, Francisco C. Ceballos, Davut Pehlivan, Ender Karaca, Yavuz Bayram, Tadahiro Mitani, Tomasz Gambin, Tugce Bozkurt-Yozgatli, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Lewis, Pengfei Liu, Eric Boerwinkle, Ada Hamosh, Richard A. Gibbs, V. Reid Sutton, Nara Sobreira, Claudia M.B. Carvalho, Chad A. Shaw, Jennifer E. Posey, David Valle, James R. Lupski
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101830- (2024)
مصطلحات موضوعية: Admixture, Consanguinity, Genomic architecture of rare disease traits, Runs of homozygosity, Turkish population, Genetics, QH426-470, Medicine
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Nidhi Ravishankar, Anam Ahmed, Cemal Karakas, Davut Pehlivan
المصدر: Stroke: Vascular and Interventional Neurology, Vol 3, Iss S1 (2023)
مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429, Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2694-5746
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7دورية أكاديمية
المؤلفون: Daniel G. Calame, Jawid M. Fatih, Isabella Herman, Zeynep Coban‐Akdemir, Haowei Du, Tadahiro Mitani, Shalini N. Jhangiani, Dana Marafi, Richard A. Gibbs, Jennifer E. Posey, Vidya P. Mehta, Carrie A. Mohila, Farida Abid, Timothy E. Lotze, Davut Pehlivan, Adekunle M. Adesina, James R. Lupski
المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 10, Pp 2052-2058 (2021)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2328-9503
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8دورية أكاديمية
المؤلفون: Ruizhi Duan, Hadia Hijazi, Elif Yilmaz Gulec, Hatice Koçak Eker, Silvia R. Costa, Yavuz Sahin, Zeynep Ocak, Sedat Isikay, Ozge Ozalp, Sevcan Bozdogan, Huseyin Aslan, Nursel Elcioglu, Débora R. Bertola, Alper Gezdirici, Haowei Du, Jawid M. Fatih, Christopher M. Grochowski, Gulsen Akay, Shalini N. Jhangiani, Ender Karaca, Shen Gu, Zeynep Coban-Akdemir, Jennifer E. Posey, Yavuz Bayram, V. Reid Sutton, Claudia M.B. Carvalho, Davut Pehlivan, Richard A. Gibbs, James R. Lupski
المصدر: HGG Advances, Vol 3, Iss 4, Pp 100132- (2022)
مصطلحات موضوعية: allelic series, Alu/Alu-mediated rearrangement, birth defect, clinical genomics, congenital limb malformation, developmental genomics, Genetics, QH426-470
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Muharrem Ak, Bernhard Suter, Zekeriya Akturk, Holly Harris, Kristina Bowyer, Laurence Mignon, Sasidhar Pasupuleti, Daniel G. Glaze, Davut Pehlivan
المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 8, Pp n/a-n/a (2022)
مصطلحات موضوعية: communication, constipation, epilepsy, fine motor, gross motor, infection, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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10دورية أكاديمية
المؤلفون: Paige B. Martin, Yu Kigoshi-Tansho, Roger B. Sher, Gianina Ravenscroft, Jennifer E. Stauffer, Rajesh Kumar, Ryo Yonashiro, Tina Müller, Christopher Griffith, William Allen, Davut Pehlivan, Tamar Harel, Martin Zenker, Denise Howting, Denny Schanze, Eissa A. Faqeih, Naif A. M. Almontashiri, Reza Maroofian, Henry Houlden, Neda Mazaheri, Hamid Galehdari, Ganka Douglas, Jennifer E. Posey, Monique Ryan, James R. Lupski, Nigel G. Laing, Claudio A. P. Joazeiro, Gregory A. Cox
المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723