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1دورية أكاديمية
المؤلفون: Josu Aguirre, Natàlia Padilla, Selen Özkan, Casandra Riera, Lídia Feliubadaló, Xavier de la Cruz
المصدر: International Journal of Molecular Sciences, Vol 24, Iss 14, p 11872 (2023)
مصطلحات موضوعية: clinical variant interpretation, molecular diagnostics, cost models, personalized medicine, in silico tools, pathogenicity prediction, Biology (General), QH301-705.5, Chemistry, QD1-999
العلاقة: https://www.mdpi.com/1422-0067/24/14/11872Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test; https://doaj.org/article/2c417bdf193e4cc0be714d0f9ec0186aTest
الإتاحة: https://doi.org/10.3390/ijms241411872Test
https://doaj.org/article/2c417bdf193e4cc0be714d0f9ec0186aTest -
2دورية أكاديمية
المؤلفون: Dvir Dahary, Yaron Golan, Yaron Mazor, Ofer Zelig, Ruth Barshir, Michal Twik, Tsippi Iny Stein, Guy Rosner, Revital Kariv, Fei Chen, Qiang Zhang, Yiping Shen, Marilyn Safran, Doron Lancet, Simon Fishilevich
المصدر: BMC Medical Genomics, Vol 12, Iss 1, Pp 1-17 (2019)
مصطلحات موضوعية: Next generation sequencing analysis, Clinical variant interpretation and classification, Exome sequencing, Whole genome sequencing, Non-coding variants, Biomedical knowledgebase, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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3
المؤلفون: Céline Bürer, Viktor Kozich, D. Sean Froese, Jochen Weile, Song Sun, Marinella Gebbia, Nishka Kishore, Robert L. Nussbaum, Iosifina Fotiadou, David Watkins, Alexander Holenstein, Ranim Maaieh, Roujia Li, Michael Garton, Rima Rozen, Linnea Blomgren, Shan Yang, Frederick P. Roth, Yingzhou Wu, Marta Verby, Julia Kitaygorodsky
المصدر: American Journal of Human Genetics
مصطلحات موضوعية: Genotype, Methylenetetrahydrofolate reductase deficiency, Folate Metabolism, DNA Mutational Analysis, Mutation, Missense, Homocystinuria, Saccharomyces cerevisiae, folate, Article, homocystinuria, 03 medical and health sciences, 0302 clinical medicine, deep mutational scanning, Dietary folate, Genetics, medicine, Humans, Missense mutation, variant effect mapping, Methylenetetrahydrofolate Reductase (NADPH2), Genetics (clinical), Gene Library, 030304 developmental biology, mthfr, 0303 health sciences, biology, clinical variant interpretation, cystathionine beta synthase, medicine.disease, Diploidy, methylenetetrahydrofolate reductase, Cystathionine beta synthase, Phenotype, molecular dynamics, digestive system diseases, Amino Acid Substitution, Methylenetetrahydrofolate reductase, gene- environment interaction, biology.protein, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a1b7fb137ff7cfb59d628fe70d842d6Test
https://doi.org/10.1016/j.ajhg.2021.05.009Test -
4صورة
المؤلفون: Payel Ganguly (579706), Landiso Madonsela (11402363), Jesse T. Chao (6724169), Christopher J. R. Loewen (6724172), Timothy P. O’Connor (11402366), Esther M. Verheyen (8208786), Douglas W. Allan (11402369)
مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Molecular Biology, Pharmacology, Evolutionary Biology, Cancer, Hematology, Infectious Diseases, Virology, Environmental Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, recent published data, genetic interaction approach, div >< p, assessing defined gene, gene variant discovery, predicted functional categories, becoming common place, human cell line, assay correctly assigned, clinical interpretation aligned, working group guidelines, offers great potential, drosophila melanogaster <, clinical variant interpretation, established assays ’, human variants adherent, powerful assay platform, benign pten variants
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5صورة
المؤلفون: Payel Ganguly (579706), Landiso Madonsela (11402363), Jesse T. Chao (6724169), Christopher J. R. Loewen (6724172), Timothy P. O’Connor (11402366), Esther M. Verheyen (8208786), Douglas W. Allan (11402369)
مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Molecular Biology, Pharmacology, Evolutionary Biology, Cancer, Hematology, Infectious Diseases, Virology, Environmental Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, recent published data, genetic interaction approach, div >< p, assessing defined gene, gene variant discovery, predicted functional categories, becoming common place, human cell line, assay correctly assigned, clinical interpretation aligned, working group guidelines, offers great potential, drosophila melanogaster <, clinical variant interpretation, established assays ’, human variants adherent, powerful assay platform, benign pten variants
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6صورة
المؤلفون: Payel Ganguly (579706), Landiso Madonsela (11402363), Jesse T. Chao (6724169), Christopher J. R. Loewen (6724172), Timothy P. O’Connor (11402366), Esther M. Verheyen (8208786), Douglas W. Allan (11402369)
مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Molecular Biology, Pharmacology, Evolutionary Biology, Cancer, Hematology, Infectious Diseases, Virology, Environmental Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, recent published data, genetic interaction approach, div >< p, assessing defined gene, gene variant discovery, predicted functional categories, becoming common place, human cell line, assay correctly assigned, clinical interpretation aligned, working group guidelines, offers great potential, drosophila melanogaster <, clinical variant interpretation, established assays ’, human variants adherent, powerful assay platform, benign pten variants
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7صورة
المؤلفون: Payel Ganguly (579706), Landiso Madonsela (11402363), Jesse T. Chao (6724169), Christopher J. R. Loewen (6724172), Timothy P. O’Connor (11402366), Esther M. Verheyen (8208786), Douglas W. Allan (11402369)
مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Molecular Biology, Pharmacology, Evolutionary Biology, Cancer, Hematology, Infectious Diseases, Virology, Environmental Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, recent published data, genetic interaction approach, div >< p, assessing defined gene, gene variant discovery, predicted functional categories, becoming common place, human cell line, assay correctly assigned, clinical interpretation aligned, working group guidelines, offers great potential, drosophila melanogaster <, clinical variant interpretation, established assays ’, human variants adherent, powerful assay platform, benign pten variants
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8صورةPTEN variant function in the wing assay compared to developmental delay assay, HEK and yeast assays.
المؤلفون: Payel Ganguly (579706), Landiso Madonsela (11402363), Jesse T. Chao (6724169), Christopher J. R. Loewen (6724172), Timothy P. O’Connor (11402366), Esther M. Verheyen (8208786), Douglas W. Allan (11402369)
مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Molecular Biology, Pharmacology, Evolutionary Biology, Cancer, Hematology, Infectious Diseases, Virology, Environmental Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, recent published data, genetic interaction approach, div >< p, assessing defined gene, gene variant discovery, predicted functional categories, becoming common place, human cell line, assay correctly assigned, clinical interpretation aligned, working group guidelines, offers great potential, drosophila melanogaster <, clinical variant interpretation, established assays ’, human variants adherent, powerful assay platform, benign pten variants
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9صورة
المؤلفون: Payel Ganguly (579706), Landiso Madonsela (11402363), Jesse T. Chao (6724169), Christopher J. R. Loewen (6724172), Timothy P. O’Connor (11402366), Esther M. Verheyen (8208786), Douglas W. Allan (11402369)
مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Molecular Biology, Pharmacology, Evolutionary Biology, Cancer, Hematology, Infectious Diseases, Virology, Environmental Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, recent published data, genetic interaction approach, div >< p, assessing defined gene, gene variant discovery, predicted functional categories, becoming common place, human cell line, assay correctly assigned, clinical interpretation aligned, working group guidelines, offers great potential, drosophila melanogaster <, clinical variant interpretation, established assays ’, human variants adherent, powerful assay platform, benign pten variants
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10صورة
المؤلفون: Payel Ganguly (579706), Landiso Madonsela (11402363), Jesse T. Chao (6724169), Christopher J. R. Loewen (6724172), Timothy P. O’Connor (11402366), Esther M. Verheyen (8208786), Douglas W. Allan (11402369)
مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Molecular Biology, Pharmacology, Evolutionary Biology, Cancer, Hematology, Infectious Diseases, Virology, Environmental Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, recent published data, genetic interaction approach, div >< p, assessing defined gene, gene variant discovery, predicted functional categories, becoming common place, human cell line, assay correctly assigned, clinical interpretation aligned, working group guidelines, offers great potential, drosophila melanogaster <, clinical variant interpretation, established assays ’, human variants adherent, powerful assay platform, benign pten variants