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1دورية أكاديمية
المؤلفون: Islam, Farrah, Htun, Stephanie, Lai, Li‐Wen, Krall, Max, Poranki, Menitha, Martin, Pierre‐Marie, Sobreira, Nara, Wohler, Elizabeth S, Yu, Jingwei, Moore, Anthony T, Slavotinek, Anne M
المصدر: Clinical Genetics. 98(5)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Anophthalmos, Calcium-Binding Proteins, Cation Transport Proteins, Cell Adhesion Molecules, Coloboma, Consanguinity, Exome, Female, High-Throughput Nucleotide Sequencing, Humans, Kinesins, Male, Membrane Proteins, Microphthalmos, Mitochondrial Membrane Transport Proteins, Mutation, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Tumor Suppressor Proteins, Exome Sequencing, Anophthalmia, cataract, CDON, Microphthalmia, TENM3, Clinical Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9pk8m065Test
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2دورية أكاديمية
المؤلفون: Lopez Jimenez Nelson, Flannick Jason, Yahyavi Mani, Li Jiang, Bardakjian Tanya, Tonkin Leath, Schneider Adele, Sherr Elliott H, Slavotinek Anne M
المصدر: BMC Medical Genetics, Vol 12, Iss 1, p 172 (2011)
مصطلحات موضوعية: anophthalmia, microphthalmia, next-generation sequencing, SOX2, OTX2, FOXE3, Internal medicine, RC31-1245, Genetics, QH426-470
العلاقة: http://www.biomedcentral.com/1471-2350/12/172Test; https://doaj.org/toc/1471-2350Test; https://doaj.org/article/822ce373625849b2af43370b7550649cTest
الإتاحة: https://doi.org/10.1186/1471-2350-12-172Test
https://doaj.org/article/822ce373625849b2af43370b7550649cTest -
3دورية أكاديمية
المؤلفون: Lopez Jimenez, Nelson, Flannick, Jason, Yahyavi, Mani, Li, Jiang, Bardakjian, Tanya, Tonkin, Leath, Schneider, Adele, Sherr, Elliott H, Slavotinek, Anne M
مصطلحات موضوعية: anophthalmia, microphthalmia, next-generation sequencing, SOX2, OTX2, FOXE3
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4دورية أكاديمية
المؤلفون: Yahyavi, Mani, Abouzeid, Hana, Gawdat, Ghada, de Preux, Anne-Sophie, Xiao, Tong, Bardakjian, Tanya, Schneider, Adele, Choi, Alex, Jorgenson, Eric, Baier, Herwig, El Sada, Mohamad, Schorderet, Daniel F., Slavotinek, Anne M.
المصدر: ISSN: 0964-6906 ; Human Molecular Genetics, vol. 22, no. 16 (2013) p. 3250-3258.
مصطلحات موضوعية: MATTHEW-WOOD-SYNDROME, RETINOIC ACID, STRA6 MUTATIONS, ANOPHTHALMIA, EYE, COLOBOMA, SPECTRUM, RECEPTOR, MICROPHTHALMIA, DEFECTS
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23591992; https://archive-ouverte.unige.ch/unige:142250Test; unige:142250
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5
المؤلفون: Slavotinek, Anne M., Chao, Ryan, Vacik, Tomas, Yahyavi, Mani, Abouzeid, Hana, Bardakjian, Tanya, Schneider, Adele, Shaw, Gary, Sherr, Elliott H., Lemke, Greg, Youssef, Mohammed, Schorderet, Daniel F.
مصطلحات موضوعية: Homeodomain, Expression, Eye, eye diseases, Gene Activity, Pax6, anophthalmia/microphthalmia, Coloboma, Sonic Hedgehog, Vax2, Vax1, Forebrain, Family, Anophthalmia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______185::9b5c9c232de3bcf1b8e376ed73069ff4Test
https://infoscience.epfl.ch/record/175990Test