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1دورية أكاديمية
المؤلفون: Lea F. Surrey, Suzanne P. MacFarland, Fengqi Chang, Kajia Cao, Komal S. Rathi, Gozde T. Akgumus, Daniel Gallo, Fumin Lin, Adam Gleason, Pichai Raman, Richard Aplenc, Rochelle Bagatell, Jane Minturn, Yael Mosse, Mariarita Santi, Sarah K. Tasian, Angela J. Waanders, Mahdi Sarmady, John M. Maris, Stephen P. Hunger, Marilyn M. Li
المصدر: Genome Medicine, Vol 11, Iss 1, Pp 1-14 (2019)
مصطلحات موضوعية: Tumor sequencing, Molecular profiling, Pediatric cancer, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
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2
المؤلفون: Gerald Wertheim, Timothy S. Olson, Marilyn M. Li, Stefan Rentas, Vinodh Pillai, Laura K. Conlin, Gozde T. Akgumus, Minjie Luo, Kim E. Nichols, Matthew A. Deardorff
المصدر: Cancer genetics. 245
مصطلحات موضوعية: Oncology, Male, Cancer Research, medicine.medical_specialty, Myeloid, Biology, 03 medical and health sciences, 0302 clinical medicine, hemic and lymphatic diseases, Internal medicine, Genetics, medicine, Adrenal insufficiency, Humans, Child, Molecular Biology, Chromosome 7 (human), Proto-Oncogene Proteins c-ets, Intracellular Signaling Peptides and Proteins, Myeloid leukemia, Syndrome, medicine.disease, Prognosis, Repressor Proteins, Leukemia, ETV6, Leukemia, Myeloid, Acute, medicine.anatomical_structure, Hypocellularity, Dysplasia, 030220 oncology & carcinogenesis, Myelodysplastic Syndromes, Core Binding Factor Alpha 2 Subunit, Mutation, Disease Progression
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3
المؤلفون: Elizabeth T. DeChene, Jennifer Tarpinian, Ahmad N. Abou Tayoun, Shavonne L. Massey, Gozde T. Akgumus, Ingo Helbig, Maria G. Vogiatzi, Kosuke Izumi, Edward J. Romasko, Jorune Balciuniene, Beth Keena, Elaine H. Zackai
المصدر: Epilepsy research. 145
مصطلحات موضوعية: 0301 basic medicine, Male, Disease, Biology, Interference (genetic), Protein expression, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Klinefelter Syndrome, medicine, Humans, Gene, Genetics, Chromosomes, Human, X, Mechanism (biology), medicine.disease, Cadherins, Protocadherins, 030104 developmental biology, Neurology, Child, Preschool, Neurology (clinical), Klinefelter syndrome, 030217 neurology & neurosurgery
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4
المؤلفون: Marilyn M. Li, Gerald Wertheim, Gozde T. Akgumus, Daniel Gallo, Edward J. Romasko, Fumin Lin, Minjie Luo, Adam Gleason, Junxia Tang, Lea F. Surrey, Xiaonan Zhao
المصدر: Cancer Genetics. :39-40
مصطلحات موضوعية: Cancer Research, Genetics, Computational biology, Biology, Molecular Biology, Characterization (materials science)
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5
المؤلفون: Marilyn M. Li, Fengqi Chang, Gozde T. Akgumus
المصدر: The Journal of molecular diagnostics : JMD. 19(4)
مصطلحات موضوعية: 0301 basic medicine, Somatic cell, Vascular Malformations, Limb Deformities, Congenital, Biology, medicine.disease_cause, Pathology and Forensic Medicine, Fingers, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, medicine, Animals, Humans, Genetic Testing, Gene, Protein kinase B, Nevus, Genetics, Sanger sequencing, Clinical Trials as Topic, Mosaicism, TOR Serine-Threonine Kinases, Genetic Variation, High-Throughput Nucleotide Sequencing, medicine.disease, Phenotype, Proteus syndrome, Hypoglycemia, Musculoskeletal Abnormalities, Malformations of Cortical Development, Polydactyly, 030104 developmental biology, 030220 oncology & carcinogenesis, symbols, Molecular Medicine, Female, Lipoma, Phosphatidylinositol 3-Kinase, Carcinogenesis, Proto-Oncogene Proteins c-akt, Hydrocephalus, Signal Transduction
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المؤلفون: Ahmad N. Abou Tayoun, Edward J. Romasko, Elizabeth T. DeChene, Laura K. Conlin, Holly Dubbs, Kajia Cao, Nancy B. Spinner, Gozde T. Akgumus, Ingo Helbig, Jorune Balciuniene, Ethan M. Goldberg, Mahdi Sarmady, Eric D. Marsh, Surabhi Mulchandani
المصدر: JAMA Network Open. 2:e192129
مصطلحات موضوعية: Male, Proband, Pediatrics, medicine.medical_specialty, Idiopathic generalized epilepsy, Epilepsy, Interquartile range, Exome Sequencing, Humans, Medicine, Genetic Predisposition to Disease, Genetic Testing, Child, Exome, Exome sequencing, Genetic testing, Tripeptidyl-Peptidase 1, medicine.diagnostic_test, business.industry, Infant, General Medicine, medicine.disease, Child, Preschool, Female, business, Case series
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7
المؤلفون: Kajia Cao, Mariarita Santi, Lea F. Surrey, Fengqi Chang, Daniel Gallo, Fumin Lin, Marilyn M. Li, Angela J. Waanders, Gozde T. Akgumus
المصدر: Cancer Genetics. :44
مصطلحات موضوعية: Cancer Research, Genomic profiling, Genetics, Pediatric Brain Tumor, Computational biology, Biology, Molecular Biology