نتائج البحث - Nazlamova, Liliya
- يعرض 1 - 7 نتائج من 7
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A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa حسب Wheway, Gabrielle, Nazlamova, Liliya, Meshad, Nervine, Hunt, Samantha, Jackson, Nicola, Churchill, Amanda
منشور في 2019نص -
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A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies حسب Nazlamova, Liliya, Thomas, N. Simon, Cheung, Man-Kim, Legebeke, Jelmer, Lord, Jenny, Pengelly, Reuben J., Tapper, William J., Wheway, Gabrielle
منشور في 2020نص -
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Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly حسب Macken, William L., Godwin, Annie, Wheway, Gabrielle, Stals, Karen, Nazlamova, Liliya, Ellard, Sian, Alfares, Ahmed, Aloraini, Taghrid, AlSubaie, Lamia, Alfadhel, Majid, Alajaji, Sulaiman, Wai, Htoo A., Self, Jay, Douglas, Andrew G. L., Kao, Alexander P., Guille, Matthew, Baralle, Diana
منشور في 2021نص -
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Genomic programming of IRF4-expressing human Langerhans cells حسب Sirvent, Sofia, Vallejo, Andres F., Davies, James, Clayton, Kalum, Wu, Zhiguo, Woo, Jeongmin, Riddell, Jeremy, Chaudhri, Virendra K., Stumpf, Patrick, Nazlamova, Liliya Angelova, Wheway, Gabrielle, Rose-Zerilli, Matthew, West, Jonathan, Pujato, Mario, Chen, Xiaoting, Woelk, Christopher H., MacArthur, Ben, Ardern-Jones, Michael, Friedmann, Peter S., Weirauch, Matthew T., Singh, Harinder, Polak, Marta E.
منشور في 2020نص