المؤلفون: Tanner Coleman, Jada Pugh, Emily Gordon, Stephanie Felker, Anna Hurst, Nadiya Sosonkina, Meagan Cochran, Sara Cooper

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101226- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424003728; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/b0699467d9ea42178fc56f6422347aa3

المؤلفون: James M. Holt, Brandon Wilk, Camille L. Birch, Donna M. Brown, Manavalan Gajapathy, Alexander C. Moss, Nadiya Sosonkina, Melissa A. Wilk, Julie A. Anderson, Jeremy M. Harris, Jacob M. Kelly, Fariba Shaterferdosian, Angelina E. Uno-Antonison, Arthur Weborg, Undiagnosed Diseases Network, Elizabeth A. Worthey

المصدر: BMC Bioinformatics, Vol 20, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Clinical genome sequencing, Variant prioritization, Binary classification, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12859-019-3026-8; https://doaj.org/toc/1471-2105

URL الوصول: https://doaj.org/article/f2c1bb0577154d0199fe50d36a271be4

المؤلفون: Nadiya Sosonkina, Dmytro Starenki, Jong-In Park

المصدر: Cancers, Vol 6, Iss 1, Pp 526-544 (2014)

مصطلحات موضوعية: thyroid cancer, JAK, STAT3, interleukin 6, leukemia inhibitory factor, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: http://www.mdpi.com/2072-6694/6/1/526; https://doaj.org/toc/2072-6694

URL الوصول: https://doaj.org/article/cc876a89ce994a41aae211b2026ef60b

المؤلفون: Dmytro Starenki, Nadiya Sosonkina, Seung-Keun Hong, Ricardo V. Lloyd, Jong-In Park

المصدر: International Journal of Molecular Sciences, Vol 20, Iss 9, p 2069 (2019)

مصطلحات موضوعية: mortalin, HSPA9, mitochondria, Mito-CP, MTC, PTC, FTC, ATC, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/20/9/2069; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/b3a271fcc65945e49bfe020dfa549a17

المؤلفون: Nadiya Sosonkina, Melissa Kelly, James Holt, David Bick, Ghunwa Nakouzi

المصدر: Genetics in Medicine. 24:S253-S254

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::486c80677d8d23600c36b454b620797d
https://doi.org/10.1016/j.gim.2022.01.438

المؤلفون: Melissa Kelly, Anna Hurst, Ghunwa Nakouzi, Nadiya Sosonkina, Meagan Cochran, David Bick

المصدر: Genetics in Medicine. 24:S231

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f7d8a1cefe444fce572c48d2b16eaf31
https://doi.org/10.1016/j.gim.2022.01.402

المؤلفون: James Holt, Melissa A. Kelly, Kelly Williams, Elaine Lyon, Ghunwa Nakouzi, David P. Bick, Nadiya Sosonkina

المصدر: Molecular Genetics and Metabolism. 132:S256

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Computational biology, Biology, Molecular Biology, Biochemistry, Genotyping, DNA sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cb216d81a23d7be4aa555797d54d17da
https://doi.org/10.1016/s1096-7192(21)00476-5

المؤلفون: Elizabeth A. Worthey, Camille L. Birch, Anita Laxova, Brandon Wilk, Donna M. Brown, Philip M. Farrell, Melissa A. Wilk, James Holt, Nadiya Sosonkina, Andrew T. Braun

المصدر: Cold Spring Harbor Molecular Case Studies

مصطلحات موضوعية: Male, Research Report, Cystic Fibrosis, bronchiectasis, Cystic Fibrosis Transmembrane Conductance Regulator, Cystic fibrosis, Pharmacogenomic Variants, 0302 clinical medicine, Genotype, Medicine, Child, multiple bilateral pneumothoraces, 0303 health sciences, elevated sweat chloride, General Medicine, Prognosis, exocrine pancreatic insufficiency, Respiratory Function Tests, Phenotype, Child, Preschool, meconium ileus, Cohort, diabetes mellitus, Radiography, Thoracic, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, chronic lung disease, 03 medical and health sciences, Neonatal Screening, Humans, Exocrine pancreatic insufficiency, 030304 developmental biology, Newborn screening, Bronchiectasis, Whole Genome Sequencing, business.industry, Siblings, Infant, Newborn, Genetic Variation, medicine.disease, Pharmacogenomic Testing, 030228 respiratory system, Pharmacogenomics, Immunology, Mutation, recurrent Aspergillus infections, business, Biomarkers, Genome-Wide Association Study, recurrent respiratory infections

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2b629024d10a387cf3988e08853b29d
https://pubmed.ncbi.nlm.nih.gov/32014855

المؤلفون: Camille L. Birch, Elizabeth A. Worthey, Nadiya Sosonkina, Brandon Wilk, Ellen Macnamara, Stan F. Nelson, Alden Y. Huang, Manavalan Gajapathy, Devon Bonner, James Holt, Nick Stong, Melissa A. Wilk, Rebecca C. Spillmann, Donna M. Brown, Shashi, Jennefer N. Kohler, Hang Lee

مصطلحات موضوعية: Whole genome sequencing, 0303 health sciences, Structural variant, Computational biology, Biology, DNA sequencing, 3. Good health, Clinical Practice, 03 medical and health sciences, 0302 clinical medicine, New disease, Identification (biology), Human genome, 030217 neurology & neurosurgery, 030304 developmental biology, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82f57a0348f9d67dc61cba30f460d1b5
https://doi.org/10.1101/627661

المؤلفون: Michael J. Flister, Nan Cher Yeo, Frank J. Rauscher, Howard J. Jacob, Ryne C. Ramaker, Jeremy W. Prokop, Jozef Lazar, Surya B. Chhetri, Aron M. Geurts, Barry I. Freedman, Eric M. Mendenhall, Seppe Leysen, Lech-Gustav Milroy, Candice J. Coppola, Nadiya Sosonkina, Emily J. Ross, Brian A. Link, Christian Ottmann, Femke A. Meijer, Kacie L. Florus, Chris McDermott-Roe

المساهمون: Chemical Biology

المصدر: Journal of the American Society of Nephrology, 29(5), 1525-1535. American Society of Nephrology

مصطلحات موضوعية: 0301 basic medicine, Gene isoform, Transcription, Genetic, Mutation, Missense, Chemie, Locus (genetics), Genome-wide association study, Biology, Renal Insufficiency, Chronic/genetics, SDG 3 – Goede gezondheid en welzijn, Transcription Factor 7-Like 2 Protein/genetics, Chronic/genetics, Mice, 03 medical and health sciences, Gene Frequency, Genetic, SDG 3 - Good Health and Well-being, Microfilament Proteins/genetics, Protein Isoforms/genetics, Animals, Humans, Renal Insufficiency, Allele, Transcription factor, Allele frequency, Alleles, Zebrafish, Cell Nucleus, Genetics, Podocytes, General Medicine, HEK293 Cells, 030104 developmental biology, Genetic Loci, Nephrology, Mutation, Human genome, Missense, Transcription, TCF7L2

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1853a0401d07037ee7e2158595241604
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85046380339