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1Academic Journal
المؤلفون: Robert Huether, Kyung Choi, Ian Zavitz, Yan Yang, Christopher Vlangos, Rachel Star, Francisco De La Vega
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100081- (2023)
وصف الملف: electronic resource
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المؤلفون: Andrew J. Shih, Tomi Jun, Andrew D. Skol, Riyue Bao, Lei Huang, Sapana Vora, Megan E. McNerney, Eric A. Hungate, Michelle M. Le Beau, Richard A. Larson, Aaron Elliott, Hsiao‐Mei Lu, Robert Huether, Felicia Hernandez, Friedrich Stölzel, James M. Allan, Kenan Onel
المصدر: British journal of haematologyReferences.
مصطلحات موضوعية: Hematology
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المؤلفون: Gary A. Palmer, Caroline G. Epstein, Michael D. Axelson, Michael E. Salazar, Matthew Kase, Martin C. Stumpe, Calvin McCarter, Ashraf T. Hafez, Joyce O'Shaughnessy, Alexandria M. Bobe, Benjamin D. Leibowitz, Ameen A. Salahudeen, Joshua S.K. Bell, Nike Beaubier, Catherine Igartua, Robert Huether, Mark D. Pegram, Louis E. Fernandes, Ruth A. Pe Benito, Sarah Sammons
المصدر: Clinical Breast Cancer. 21:e340-e361
مصطلحات موضوعية: Male, 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, Databases, Factual, Receptor, ErbB-2, Population, Breast Neoplasms, Sensitivity and Specificity, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Internal medicine, medicine, Humans, Longitudinal Studies, Stage (cooking), education, Aged, Retrospective Studies, education.field_of_study, medicine.diagnostic_test, Sequence Analysis, RNA, business.industry, Gene Expression Profiling, RNA, Middle Aged, medicine.disease, United States, 030104 developmental biology, Receptors, Estrogen, 030220 oncology & carcinogenesis, Cohort, Feasibility Studies, Immunohistochemistry, Female, business, Fluorescence in situ hybridization
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المؤلفون: Benjamin D. Leibowitz, Nike Beaubier, Jason Perera, Ariane Lozac’hmeur, Ameen A. Salahudeen, Aly A. Khan, Timothy Taxter, Kaanan P. Shah, Derick Hoskinson, Emily Kudalkar, Jackson Michuda, Jerod Parsons, Alexandria M. Bobe, Denise Lau, Stephen Bush, Robert Huether, Alan L. Chang, Wei Zhu, Robert Tell, Kevin P. White, Martin Bontrager, Catherine Igartua
المصدر: Nature Biotechnology. 37:1351-1360
مصطلحات موضوعية: Male, Oncology, medicine.medical_specialty, Genomic profiling, medicine.medical_treatment, Biomedical Engineering, Bioengineering, Applied Microbiology and Biotechnology, Germline, Fusion gene, 03 medical and health sciences, 0302 clinical medicine, Neoplasms, Internal medicine, Biomarkers, Tumor, Humans, Medicine, natural sciences, Molecular Targeted Therapy, Precision Medicine, 030304 developmental biology, 0303 health sciences, Sequence Analysis, RNA, business.industry, Gene Expression Profiling, Genomics, Sequence Analysis, DNA, Evidence-based medicine, Immunotherapy, Transcriptome Sequencing, Gene Expression Regulation, Neoplastic, Clinical trial, Molecular Medicine, Biomarker (medicine), Female, business, 030217 neurology & neurosurgery, Biotechnology
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المؤلفون: Kaanan P. Shah, Jason Perera, Eric Lefkofsky, Jerod Parsons, Aly Khan, Denise Lau, Catherine Iguartua, Robert Tell, Timothy Taxter, Martin Bontrager, Shelly Sorrells, Kimberly Yeatts, Stephen Bush, Jackson Michuda, Nike Beaubier, Shelley M. MacNeil, Kevin P. White, Alan Chang, Timothy Baker, Brett Mahon, Robert Huether, Philip Ellis
المصدر: Oncotarget
مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Somatic cell, Microsatellite instability, Biology, medicine.disease, next-generation sequencing assay validation, DNA sequencing, tumor profiling, Fusion gene, Transcriptome, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, Internal medicine, medicine, Copy-number variation, Indel, Gene, Research Paper
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المؤلفون: Nike Beaubier, Matthew Kase, Ameen A. Salahudeen, Martin C. Stumpe, Louis E. Fernandes, Ruth A. Pe Benito, Joshua S.K. Bell, Alexandria M. Bobe, Caroline G. Epstein, Michael D. Axelson, Gary A. Palmer, Catherine Igartua, Calvin McCarter, Michael E. Salazar, Joyce O'Shaughnessy, Robert Huether, Mark D. Pegram, Sarah Sammons, Ashraf T. Hafez, Benjamin D. Leibowitz
مصطلحات موضوعية: Oncology, medicine.medical_specialty, education.field_of_study, business.industry, Population, RNA, Real world evidence, medicine.disease, Breast cancer, Text mining, Internal medicine, Cohort, Medicine, Immunohistochemistry, Stage (cooking), business, education
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المؤلفون: Francisco De La Vega, Len Trigg, Kurt Gaastra, Sean Irvine, Gene Selkov, Yan Yang, Kyung Choi, Robert Huether
المصدر: Genetics in Medicine. 24:S68
مصطلحات موضوعية: Genetics (clinical)
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8Gene‐specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel
المؤلفون: Kathleen S. Hruska, Joanne Ngeow, Rajarshi Ghosh, Madhuri Hegde, Robert Huether, Sharon E. Plon, Liying Zhang, Charis Eng, Jessica L. Mester, Helio A. Costa, Laura V. Milko, Jill S. Barnholtz-Sloan, Katherine Lachlan, Tina Pesaran, Felicia Hernandez, Rachid Karam, Kaitlin Sesock
المصدر: Human Mutation. 39:1581-1592
مصطلحات موضوعية: 0301 basic medicine, biology, Genome, Human, Concordance, PTEN Phosphohydrolase, Genetic Variation, High-Throughput Nucleotide Sequencing, Computational biology, Article, 03 medical and health sciences, 030104 developmental biology, Likely benign, Databases, Genetic, Genetics, biology.protein, Humans, PTEN, Hereditary Cancer, Genetic Testing, Uncertain significance, Gene, Software, Genetics (clinical), Likely pathogenic
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المؤلفون: Christina Lee, Mathew J. Barber, Nike Beaubier, Dan R. Robinson, Kevin P. White, Tim Taxter, Timothy Baker, Gary A. Palmer, Kaanan P. Shah, Stephen Bush, Eric Lefkofsky, Robert Huether, Robert J. Lonigro, Denise Lau, Arul M. Chinnaiyan, Sam Bettis, Yi-Mi Wu, Amy Franzen, Robert Tell, Marcin Cieslik, Xuhong Cao, Jerod Parsons, Amber Thomas, Casey Frankenberger, Ali Weiner, Martin Bontrager, Gene Selkov, Aly Khan
المصدر: Oncotarget
مصطلحات موضوعية: 0301 basic medicine, business.industry, RNA, Gene rearrangement, genomic test, Tempus, Predictive value, Molecular biology, Germline, Transcriptome, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, gene panel, Oncology, 030220 oncology & carcinogenesis, Gene panel, cancer, Medicine, business, transcriptome, Research Paper
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المؤلفون: Rhonda E. Ries, Li Dong, Michael Rusch, Yanling Liu, Zhaoming Wang, Jaime M. Guidry Auvil, John Easton, Yongjin Li, Sharon J. Diskin, Xueyuan Cao, Elizabeth J. Perlman, Ching C. Lau, Robert Huether, Veronica Gonzalez-Pena, Charles Gawad, Ludmil B. Alexandrov, Michael N. Edmonson, Stephen P. Hunger, Mark R. Wilkinson, Paul S. Meltzer, Xiaotu Ma, Daniela S. Gerhard, Xiang Chen, Xin Zhou, Edgar Sioson, Leandro C. Hermida, Soheil Meshinchi, John M. Maris, Stanley Pounds, Sean Davis, Malcolm A. Smith, Yu Liu, Jinghui Zhang
المصدر: Nature. 555:371-376
مصطلحات موضوعية: 0301 basic medicine, Mutation rate, DNA Copy Number Variations, Ultraviolet Rays, Aneuploidy, Biology, Genome, Transcriptome, 03 medical and health sciences, Mutation Rate, Neoplasms, medicine, Humans, Exome, Precision Medicine, Allele, Child, Gene, Alleles, Genetics, Leukemia, Multidisciplinary, Genome, Human, Gene Expression Profiling, Oncogenes, medicine.disease, Human genetics, 3. Good health, Gene Expression Regulation, Neoplastic, Gene expression profiling, 030104 developmental biology, Mutation
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المؤلفون: Kelly D. Farwell Hagman, Deepali N. Shinde, Cameron Mroske, Erica Smith, Kelly Radtke, Layla Shahmirzadi, Dima El-Khechen, Zöe Powis, Elizabeth C. Chao, Wendy A. Alcaraz, Katherine L. Helbig, Samin A. Sajan, Mari Rossi, Hsiao-Mei Lu, Robert Huether, Shuwei Li, Sitao Wu, Mark E. Nuñes, Sha Tang
المصدر: Genetics in Medicine
مصطلحات موضوعية: novel genetic etiologies, Genetic Diseases, Inborn, Correction, High-Throughput Nucleotide Sequencing, clinical diagnostic exome sequencing, gene–disease relationships, novel disease genes, Databases, Genetic, Mutation, Exome Sequencing, Humans, Exome, Original Research Article, candidate genes, Genetics (clinical), Genetic Association Studies
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المؤلفون: Ingrid M. Wentzensen, R. Colombo, L. Baker, L. Immken, T. Barbaro-Dieber, Cameron Mroske, Julie S. Cohen, H. Nagakura, Ali Fatemi, J.F. Reynolds, E.S. Jordan, Zöe Powis, Christopher Cunniff, M. T. Cho, Jennifer Burton, Kirsty McWalter, I. Petrik, Rebecca Willaert, Kevin R. Payne, Joseph H. Hersh, Robert Huether, K.A. Aleck, Karen W. Gripp, T. Stamper, K.D. Farwell Hagman, M.J. Guillen Sacoto, K.L. David, Alessandro Serretti, Sha Tang
المساهمون: Powis, Z., Farwell Hagman, K.D., Mroske, C., McWalter, K., Cohen, J.S., Colombo, R., Serretti, A., Fatemi, A., David, K.L., Reynolds, J., Immken, L., Nagakura, H., Cunniff, C.M., Payne, K., Barbaro-Dieber, T., Gripp, K.W., Baker, L., Stamper, T., Aleck, K.A., Jordan, E.S., Hersh, J.H., Burton, J., Wentzensen, I.M., Guillen Sacoto, M.J., Willaert, R., Cho, M.T., Petrik, I., Huether, R., Tang, S.
المصدر: Clinical Genetics. 93:752-761
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Developmental Disabilities, Penetrance, Biology, Young Adult, 03 medical and health sciences, Genetic, Intellectual Disability, Exome Sequencing, Intellectual disability, Genetics, medicine, Humans, Global developmental delay, Child, Gene, Genetics (clinical), Exome sequencing, Sequence (medicine), Infant, SETD5, Methyltransferases, Middle Aged, Body Dysmorphic Disorders, medicine.disease, Phenotype, haploinsufficiency, 030104 developmental biology, Child, Preschool, Mutation, Female, Chromosomes, Human, Pair 3, Chromosome Deletion, Haploinsufficiency
وصف الملف: STAMPA
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المؤلفون: Laurine Perrin, Sha Tang, Brandon S. Guida, Tjitske Kleefstra, Marjolein H. Willemsen, Heather Stickney, Michael C. Kruer, Keri Ramsey, Heather C Mefford, Lynette G. Sadleir, Bobby P. C. Koeleman, Evelyn Sattlegger, Angela E. Lin, Sara A. Lewis, Marcello Scala, Sergio Padilla-Lopez, Luis O. Rohena, Joaquim Sa, Marie Laure Mathieu, Floor E. Jansen, Joy Y. Sebe, David W. Raible, Giorgio Casari, Gemma L. Carvill, Ingrid E. Scheffer, Paul A. Caruso, Robert Huether, Mariasavina Severino, Candace T. Myers, Eva H. Brilstra, Ashwin A. Bhandiwad, Katherine L. Helbig, Somayeh Bakhtiari, Sehribani Ulusoy Oktay, Gaetan Lesca, Vinodh Narayanan, Georgina Hollingsworth, Tyler N. Kruer, Christel Depienne, Valeria Capra, Pasquale Striano, Timothy Feyma, Deepak Gill, Andrea Accogli, Caroline Nava
المساهمون: Carvill, G. L., Helbig, K. L., Myers, C. T., Scala, M., Huether, R., Lewis, S., Kruer, T. N., Guida, B. S., Bakhtiari, S., Sebe, J., Tang, S., Stickney, H., Oktay, S. U., Bhandiwad, A. A., Ramsey, K., Narayanan, V., Feyma, T., Rohena, L. O., Accogli, A., Severino, M., Hollingsworth, G., Gill, D., Depienne, C., Nava, C., Sadleir, L. G., Caruso, P. A., Lin, A. E., Jansen, F. E., Koeleman, B., Brilstra, E., Willemsen, M. H., Kleefstra, T., Sa, J., Mathieu, M. -L., Perrin, L., Lesca, G., Striano, P., Casari, G., Scheffer, I. E., Raible, D., Sattlegger, E., Capra, V., Padilla-Lopez, S., Mefford, H. C., Kruer, M. C.
المصدر: Human Mutation, 41, 1263-1279
Hum Mutat
Human Mutation, 41, 7, pp. 1263-1279مصطلحات موضوعية: Adult, Male, de novo, Heterozygote, Adolescent, Encephalopathy, Choreoathetosis, Mutation, Missense, EEF1A2, Haploinsufficiency, Biology, Article, 03 medical and health sciences, Epilepsy, All institutes and research themes of the Radboud University Medical Center, Peptide Elongation Factor 1, Genetics, medicine, Missense mutation, Humans, Child, Genetics (clinical), 030304 developmental biology, Dystonia, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], 030305 genetics & heredity, Genetic Complementation Test, medicine.disease, yeast complementation assay, Protein Structure, Tertiary, dyskinesia, Child, Preschool, epilepsy, Cerebellar atrophy, Epilepsy, Generalized, Female, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
وصف الملف: application/pdf
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المؤلفون: Deepali N. Shinde, Elizabeth C. Chao, Kelly Radtke, Sitao Wu, Zöe Powis, Mari Rossi, Shuwei Li, Katherine L. Helbig, Samin A. Sajan, Cameron Mroske, Hsiao-Mei Lu, Mark E. Nunes, Kelly D. Farwell Hagman, Sha Tang, Wendy Alcaraz, Dima El-Khechen, Layla Shahmirzadi, Robert Huether, Erica D. Smith
المصدر: Genetics in Medicine. 19:224-235
مصطلحات موضوعية: 0301 basic medicine, Genetics, 03 medical and health sciences, Candidate gene, 030104 developmental biology, business.industry, Mutation (genetic algorithm), Medicine, business, Exome, Genetics (clinical), Exome sequencing
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المؤلفون: Deepali N. Shinde, Julie S. Cohen, Robert Huether, D. Darcy, Kristin G. Monaghan, Siddharth Srivastava, K.D. Farwell Hagman, R. Wallerstein, A.L. Wilson, Andrea Poretti, Ali Fatemi, Siren Berland, Gunnar Houge, Wendy K. Chung
المصدر: Clinical Genetics. 91:697-707
مصطلحات موضوعية: 0301 basic medicine, Genetics, Microcephaly, Biology, medicine.disease, Corpus callosum, Hypoplasia, 03 medical and health sciences, 030104 developmental biology, Agenesis, Intellectual disability, medicine, Missense mutation, Haploinsufficiency, Genetics (clinical), Exome sequencing
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المؤلفون: Ashiq Masood, Robert Huether, Jeffrey A. Borgia, Catherine Igartua, Lee F. Langer, Veronica Sanchez-Freire, Brandon Mapes, Joshua S.K. Bell, Ameen A. Salahudeen, Robert Tell
المصدر: Cancer Research. 80:3908-3908
مصطلحات موضوعية: Transcriptome, Cancer Research, Oncology, Concordance, Organoid, Computational biology, Biology
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المؤلفون: Emily Kudalkar, Sumaiya A. Islam, Robert Huether
المصدر: Cancer Research. 80:5474-5474
مصطلحات موضوعية: Cancer Research, Computer science, Low Confidence, Breakpoint, Druggability, Cancer, Computational biology, medicine.disease, Pipeline (software), Identification (information), Oncology, Fusion transcript, medicine, Gene
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المؤلفون: Sorahia Domenice, Mirian Yumie Nishi, Elaine Maria Frade Costa, Harry Ostrer, Hsiao Mei Liu, Aline Zamboni Machado, O. Vivian, Berenice B. Mendonca, Michael Groden, Jacqueline Velasco, Kinnari Upadhyay, Adam C. Chamberlin, Nathalia Lisboa Gomes, Johnny Loke, Robert Huether, Antonio M. Lerario
المصدر: Human molecular genetics. 28(10)
مصطلحات موضوعية: Forkhead Box Protein L2, Male, rac1 GTP-Binding Protein, RHOA, MAP Kinase Signaling System, Disorders of Sex Development, Mutation, Missense, MAP Kinase Kinase Kinase 1, Plasma protein binding, MAP3K1, MAP Kinase Kinase Kinase 4, 03 medical and health sciences, Proto-Oncogene Proteins, Genetics, MAPK11, Humans, Molecular Biology, Genetics (clinical), Adaptor Proteins, Signal Transducing, Armadillo Domain Proteins, Gonadal Dysgenesis, 46,XY, 0303 health sciences, Disorder of Sex Development, 46,XY, biology, MAP kinase kinase kinase, 030305 genetics & heredity, General Medicine, Sex-Determining Region Y Protein, Testis determining factor, Gene Expression Regulation, Armadillo repeats, biology.protein, Female, Guanine nucleotide exchange factor, rhoA GTP-Binding Protein, Protein Binding
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المؤلفون: I. Petrik, C.M.A. van Ravenswaaij-Arts, Deborah A Sival, Rashmi Chikarmane, D Escolar, Sha Tang, Amber Begtrup, Rolph Pfundt, Robert Huether, Tjitske Kleefstra, Alexander P.A. Stegmann, Deepali N. Shinde, Jennifer Burton, Zöe Powis, Julie S. Cohen
المساهمون: Movement Disorder (MD), Clinical Cognitive Neuropsychiatry Research Program (CCNP), RS: FHML non-thematic output, MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA Pat Cytologie (9)
المصدر: Clinical Genetics, 93(5), 1030-1038. Wiley
Clinical Genetics, 93, 1030-1038
Clinical Genetics, 93, 5, pp. 1030-1038مصطلحات موضوعية: Male, 0301 basic medicine, Candidate gene, INTELLECTUAL DISABILITY, Autism Spectrum Disorder, Developmental Disabilities, FEATURES, Haploinsufficiency, 2Q33.3-Q34 INTERSTITIAL DELETION, Intellectual disability, Missense mutation, whole-exome sequencing, Child, Genetics (clinical), REGIONS, Phenotype, TRANSCRIPTION FACTOR KLF7, Hypotonia, KLF7, Autism spectrum disorder, Child, Preschool, Female, medicine.symptom, EXPRESSION, medicine.medical_specialty, Adolescent, PROTEINS, Mutation, Missense, autism, zinc finger DNA-binding protein, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, Psychiatry, clinical diagnostics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], SMART, business.industry, MUTATIONS, medicine.disease, MODEL, 030104 developmental biology, Kruppel-like transcription factors, Autism, business
وصف الملف: application/pdf
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المؤلفون: Charles G. Mullighan, Chunxu Qu, Xiaoping Su, Lei Wei, Debbie Payne-Turner, Jinghui Zhang, Alistair G. Rust, James R. Downing, Jing Ma, David J. Adams, Louise van der Weyden, Kathryn G. Roberts, Jeroen de Ridder, Jinjun Dang, Laura J. Janke, Robert Huether, Brenda A. Schulman, Jinjun Cheng, Guangchun Song, Gang Wu
المصدر: Blood. 125:3609-3617
مصطلحات موضوعية: Immunology, Biology, Biochemistry, law.invention, Mice, immune system diseases, law, Transcription (biology), hemic and lymphatic diseases, medicine, Animals, Transcription factor, Gene, Lymphoid Neoplasia, Activator (genetics), Tumor Suppressor Proteins, PAX5 Transcription Factor, Neoplasms, Experimental, Cell Biology, Hematology, Precursor Cell Lymphoblastic Leukemia-Lymphoma, medicine.disease, Mice, Mutant Strains, Leukemia, Cancer research, Suppressor, PAX5, Haploinsufficiency, Gene Deletion