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1دورية أكاديمية
المؤلفون: Runjun D. Kumar, Lindsay C. Burrage, Jan Bartos, Saima Ali, Eric Schmitt, Sandesh C.S. Nagamani, Cynthia LeMons
المصدر: Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100706- (2021)
مصطلحات موضوعية: Urea cycle disorder, Genetic testing, Intronic variant, Ornithine transcarbamylase deficiency, OTC c.540+265G>A, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Emily Zhou, Baoyi Zhang, Kenneth Zhu, Evelien Schaafsma, Runjun D. Kumar, Chao Cheng
المصدر: Clinical and Translational Medicine, Vol 10, Iss 8, Pp n/a-n/a (2020)
مصطلحات موضوعية: Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2001-1326
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3دورية أكاديمية
المؤلفون: Runjun D. Kumar, Ron Bose
المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-12 (2017)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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المؤلفون: Runjun D. Kumar, Linyan Meng, Pengfei Liu, Christina Y. Miyake, Kim C. Worley, Weimin Bi, Seema R. Lalani
المصدر: Am J Med Genet A
مصطلحات موضوعية: Stroke, Phenotype, Exome Sequencing, Genetics, Humans, Exome, Article, Genetics (clinical), Retrospective Studies
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5
المصدر: American Journal of Medical Genetics Part A. 188:2204-2208
مصطلحات موضوعية: Genetics, Genetics (clinical)
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7
المصدر: Cancer Genetics. :80-84
مصطلحات موضوعية: Genetics, Cancer Research, Genome, Human, Nonsense-mediated decay, Disease, Biology, Prognosis, Germline, DNA sequencing, Nonsense Mediated mRNA Decay, Frameshift mutation, Phenotype, Germline mutation, Codon, Nonsense, Neoplasms, Cancer genome, Biomarkers, Tumor, Humans, Cancer gene, Molecular Biology, Gene, Selection (genetic algorithm)
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المؤلفون: Siraj M. Ali, Ron Bose, Vincent A. Miller, Kyle Gowen, Caitlin F. Connelly, Garrett M. Frampton, Alexa B. Schrock, Runjun D. Kumar, Jeffrey S. Ross, Yakov Chudnovsky, Rachel L. Erlich, Philip J. Stephens
المصدر: JCO precision oncology. 1
مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, business.industry, medicine.medical_treatment, Metastatic Breast Carcinoma, Targeted therapy, Internal medicine, Mutation (genetic algorithm), medicine, Cancer research, business, Human Epidermal Growth Factor Receptor 2
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4861b7efbcc71be9447ee99444b035c6
https://pubmed.ncbi.nlm.nih.gov/35172500 -
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المؤلفون: Charmaine P Mutucumarana, Runjun D. Kumar, Gail J. Demmler, Veena Ramgopal, Dana M. Foradori
المصدر: Clinical Pediatrics. 59:516-518
مصطلحات موضوعية: medicine.medical_specialty, Bartonella henselae, biology, business.industry, Facial Paralysis, Cat-Scratch Disease, biology.organism_classification, medicine.disease, Fever of Unknown Origin, Dermatology, Diagnosis, Differential, Child, Preschool, Pediatrics, Perinatology and Child Health, medicine, Humans, Facial nerve palsy, Female, Fever of unknown origin, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62cb9a00945021bc72498eee05279798
https://doi.org/10.1177/0009922819900967