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1دورية أكاديمية
المؤلفون: Jaratlerdsiri, WeerachaiAff1, Aff2, Jiang, JueAff1, Aff2, Gong, TingtingAff1, Aff2, Aff15, Patrick, Sean M., Willet, Cali, Chew, Tracy, Lyons, Ruth J., Haynes, Anne-Maree, Pasqualim, GabrielaAff5, Aff6, Louw, Melanie, Kench, James G., Campbell, Raymond, Horvath, Lisa G.Aff2, Aff10, Chan, Eva K. F.Aff2, Aff16, Wedge, David C., Sadsad, Rosemarie, Brum, Ilma Simoni, Mutambirwa, Shingai B. A., Stricker, Phillip D.Aff2, Aff13, Bornman, M. S. Riana, Hayes, Vanessa M.Aff1, Aff2, Aff3, Aff14, IDs41586022051546_cor21
المصدر: Nature: International weekly journal of science. 609(7927):552-559
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2دورية أكاديمية
المؤلفون: Tingting Gong, Weerachai Jaratlerdsiri, Jue Jiang, Cali Willet, Tracy Chew, Sean M. Patrick, Ruth J. Lyons, Anne-Maree Haynes, Gabriela Pasqualim, Ilma Simoni Brum, Phillip D. Stricker, Shingai B. A. Mutambirwa, Rosemarie Sadsad, Anthony T. Papenfuss, Riana M. S. Bornman, Eva K. F. Chan, Vanessa M. Hayes
المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-14 (2022)
مصطلحات موضوعية: Chromosomal instability, Prostate cancer, African ancestry, Advanced disease, Ethnic disparity, Whole genome sequencing, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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3دورية أكاديمية
المؤلفون: Gong, TingtingAff1, Aff2, Aff3, Jaratlerdsiri, WeerachaiAff1, Aff2, Jiang, JueAff1, Aff2, Willet, Cali, Chew, Tracy, Patrick, Sean M., Lyons, Ruth J., Haynes, Anne-Maree, Pasqualim, GabrielaAff6, Aff7, Brum, Ilma Simoni, Stricker, Phillip D.Aff2, Aff8, Mutambirwa, Shingai B. A., Sadsad, Rosemarie, Papenfuss, Anthony T.Aff10, Aff11, Bornman, Riana M. S., Chan, Eva K. F.Aff2, Aff12, Hayes, Vanessa M.Aff1, Aff2, Aff5, Aff13, IDs1307302201096w_cor17
المصدر: Genome Medicine. 14(1)
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4دورية أكاديمية
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
مصطلحات موضوعية: Mucopolysaccharidoses (MPS), Estimated prevalence, Exome aggregation consortium (ExAC), Genome aggregation database (gnomAD), In silico analysis, Medicine
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Pâmella Borges, Gabriela Pasqualim, Ursula Matte
المصدر: Frontiers in Molecular Biosciences, Vol 8 (2021)
مصطلحات موضوعية: mucopolysaccharidosis type I (MPS I), missense variants, in silico predictions, VUS classifications, molecular diagnosis, Biology (General), QH301-705.5
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Borges, PâmellaAff1, Aff2, Aff3, Pasqualim, Gabriela, Giugliani, RobertoAff3, Aff5, Aff6, Vairo, FilippoAff7, Aff8, Matte, UrsulaAff1, Aff2, Aff3, Aff5
المصدر: Orphanet Journal of Rare Diseases. 15(1)
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7دورية أكاديمية
المؤلفون: Heydy Bravo, Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Claudio Sampaio Filho, Fernanda Bittencourt, Fernanda Sebastião, Fernanda Bender, Ana Paula Scholz de Magalhães, Régis Guidobono, Franciele Barbosa Trapp, Kristiane Michelin-Tirelli, Carolina F.M. Souza, Diana Rojas Málaga, Gabriela Pasqualim, Ana Carolina Brusius-Facchin, Roberto Giugliani
المصدر: Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 92-97 (2017)
مصطلحات موضوعية: Lysosomal storage diseases, Newborn screening, Confirmatory diagnosis, Carrier, Pseudodeficiency, Brazil, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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8دورية أكاديمية
المصدر: Genetics and Molecular Biology, Iss 0 (2019)
مصطلحات موضوعية: Lysosomal storage disease, gene therapy, cardiovascular disease, animal models, heart, Genetics, QH426-470
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Diana Rojas Málaga, Ana Carolina Brusius-Facchin, Marina Siebert, Gabriela Pasqualim, Maria Luiza Saraiva-Pereira, Carolina F.M de Souza, Ida V.D. Schwartz, Ursula Matte, Roberto Giugliani
المصدر: Genetics and Molecular Biology, Iss 0 (2019)
مصطلحات موضوعية: Ion Torrent, molecular diagnostics, next-generation sequencing, lysosomal storage disorders, validation, Genetics, QH426-470
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Ana Carolina Brusius-Facchin, Marina Siebert, Delva Leão, Diana Rojas Malaga, Gabriela Pasqualim, Franciele Trapp, Ursula Matte, Roberto Giugliani, Sandra Leistner-Segal
المصدر: Genetics and Molecular Biology, Iss 0 (2019)
مصطلحات موضوعية: Lysosomal storage disease, mucopolysaccharidoses, next generation sequencing, target sequence, mutation detection, Genetics, QH426-470
وصف الملف: electronic resource