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1Academic Journal
المؤلفون: Powis, Z, Farwell Hagman, K D, Speare, V, Cain, T, Mayerhofer, Emily, Tilstra, David, MD, Vedder, Timothy
المصدر: Articles
مصطلحات موضوعية: Diagnostic exome sequencing, Genetic counseling, Genetic testing, Medical Genetics
Relation: https://digitalcommons.centracare.com/articles/81; https://www.ncbi.nlm.nih.gov/pubmed/29565416
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2Conference
المساهمون: Muzny, Donna
المصدر: Conference: 7th Annual Sequencing, Finishing, Analysis in the Future Meeting, 2012: Santa Fe, New Mexico (United States), June 5 - 7, 2012
وصف الملف: Medium: AV; Size: 0:17:13; Other: run time: 00:17:13
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3
المؤلفون: Sha Tang, Jesse M. Hunter, Samin A. Sajan, Kelly D. Farwell Hagman, Kelly Radtke, Cathy A. Stevens, Erica D. Smith, Deepali N. Shinde, Wendy Alcaraz, Candace Muss, Kirsten Blanco, Jennifer Huang, Bess Wayburn, Mari Rossi
المصدر: Genetics in Medicine
مصطلحات موضوعية: Male, Genotype, Bioinformatics, Article, Diagnosis, Differential, symbols.namesake, multilocus genomic variation, distinct vs. overlapping phenotypes, Exome Sequencing, medicine, Humans, In patient, Exome, Genetic Testing, Medical diagnosis, Genetics (clinical), Organ system, Exome sequencing, Diagnostic Techniques and Procedures, Retrospective Studies, Retrospective review, business.industry, multiple genetic diseases, High-Throughput Nucleotide Sequencing, Genomics, Sequence Analysis, DNA, medicine.disease, Comorbidity, diagnostic exome sequencing, comorbidity, Phenotype, Mutation, Mendelian inheritance, symbols, Female, business
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4
المؤلفون: Nancy Niguidula, Julie S. Cohen, Kelly D. Farwell Hagman, Christina Alamillo, Zöe Powis, Layla Shahmirzadi Mowlavi
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, medical management, clinical utility, 03 medical and health sciences, Exome Sequencing, Genetics, Humans, Medicine, Genetic Testing, Child, Molecular Biology, Exome, Genetics (clinical), Exome sequencing, Aged, Aged, 80 and over, business.industry, diagnostic odyssey, Disease Management, Diagnostic test, Original Articles, Middle Aged, diagnostic exome sequencing, 030104 developmental biology, Child, Preschool, Female, Original Article, whole‐exome sequencing, business, Healthcare providers, Facilities and Services Utilization
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5
المؤلفون: Honey Nagakura, Katherine L. Helbig, Samin A. Sajan, Zöe Powis, LaDonna Immken, Wendy Alcaraz, Sha Tang
المصدر: Clinical Case Reports
مصطلحات موضوعية: 0301 basic medicine, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, uniparental disomy, business.industry, GLI2, Case Report, General Medicine, Case Reports, medicine.disease, developmental anomalies, Uniparental disomy, diagnostic exome sequencing, 03 medical and health sciences, 030104 developmental biology, Medicine, Chromosome 20, business, Haploinsufficiency, Exome sequencing
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6
المؤلفون: Klau, Julia, Popp, Bernt
مصطلحات موضوعية: diagnostic exome sequencing, neurodevelopmental disorders, epilepsy, diagnostic costs, cost reduction
Relation: https://doi.org/10.5281/zenodo.5129074; https://doi.org/10.5281/zenodo.5129075; oai:zenodo.org:5129075
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7Report
المؤلفون: Mroske, Cameron, Rasmussen, Kristen, Shinde, Deepali, Huether, Robert, Powis, Zoe, Lu, Hsiao-Mei, Baxter, Ruth, McPherson, Elizabeth, Tang, Sha
مصطلحات موضوعية: Diagnostic exome sequencing, Family-trio, MTOR, Autism, ASD, Macrocephaly, Megalencephaly, Gonadal mosaicism, Gain-of-function, Missense alteration
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8
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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9
المؤلفون: Margaret Waltz, Jonathan S. Berg, Myra I. Roche, Christine Rini, Ida Griesemer, Gail E. Henderson, Julianne M. O’Daniel, James P. Evans, Ann Katherine M. Foreman
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: Genetics, genomic, knowledge, Context (language use), Diagnostic exome sequencing, Psychology, Genetics (clinical), Exome sequencing, Article, decision making, disparities
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10
المؤلفون: Kendra Waller, Deepali N. Shinde, Mari Rossi, Zöe Powis, Kelly Radtke, Erica D. Smith, Sourat Darabi, Sha Tang, Kelly D. Farwell Hagman, Katherine L. Helbig, Dima El-Khechen, Dorothy K. Grange
المصدر: Human Mutation
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Scoring system, Context (language use), Disease, Biology, Bioinformatics, reclassifications, gene–disease association, 03 medical and health sciences, Acquired immunodeficiency syndrome (AIDS), clinical validity, Genetics, medicine, Methods, Humans, Exome, SCYL1, Intensive care medicine, novel candidate genetic etiology, Genetics (clinical), Exome sequencing, Genetic Association Studies, Clinical genomics, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Genomics, Sequence Analysis, DNA, medicine.disease, diagnostic exome sequencing, 030104 developmental biology, SNAP25, characterized genetic etiology, Clinical validity
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11
المؤلفون: Chang-Seok Ki
المصدر: Pediatric Gastroenterology, Hepatology & Nutrition
مصطلحات موضوعية: Candidate gene, Hepatology, business.industry, Genetic heterogeneity, Gastroenterology, Review Article, Computational biology, Diagnostic exome sequencing, medicine.disease, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Pediatrics, Perinatology and Child Health, Next-generation sequencing, Lysosomal storage disease, medicine, Primary immunodeficiency, Glycogen storage disease, 030211 gastroenterology & hepatology, business, High-throughput nucleotide sequencing, Diagnostic genome sequencing, Gene, Exome sequencing
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12
المؤلفون: Paola Spessotto, Francesco Bucciotti, Peter J. Hulick, Roberto Doliana, Cameron Mroske, Qingshen Gao, Kelly D. Farwell, Brigette Tippin Davis, Alfonso Colombatti, Scott M. Weissman, Alessandra Capuano
المصدر: Human Mutation
مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Pathology, Connective Tissue Disorder, Biopsy, DNA Mutational Analysis, Gene Expression, Mice, EMILIN‐1, Cluster Analysis, Exome, Connective Tissue Diseases, Genetics (clinical), Exome sequencing, Research Articles, connective tissue, Genes, Dominant, Skin, Genetics, Sanger sequencing, Membrane Glycoproteins, High-Throughput Nucleotide Sequencing, Connective tissue disease, Magnetic Resonance Imaging, diagnostic exome sequencing, Pedigree, medicine.anatomical_structure, Phenotype, symbols, Female, Research Article, medicine.medical_specialty, Molecular Sequence Data, Connective tissue, Biology, Cell Line, 03 medical and health sciences, symbols.namesake, autosomal dominant, medicine, Animals, Humans, Amino Acid Sequence, EMILIN1, Computational Biology, medicine.disease, 030104 developmental biology, Mutation, biology.protein, neuropathy, Elastin, Sequence Alignment
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13
المؤلفون: Teodora Chamova, Dimitar N. Azmanov, Laura Florez, Luba Kalaydjieva, Ivailo Tournev, Melanie Bahlo, Dochka Tzoneva, Velina Guergueltcheva, Vladimir Gelev, Dora Zlatareva, Rick M. Tankard, Michael Bynevelt
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: Lissencephaly, Biology, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Missense mutation, Molecular Biology, Exome, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, Genetic heterogeneity, founder mutations, VLDLR, dysequilibrium syndrome, Original Articles, Diagnostic exome sequencing, medicine.disease, 3. Good health, Roma/Gypsies, Mutation (genetic algorithm), Eye disorder, 030217 neurology & neurosurgery, Founder effect
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14
المؤلفون: Cameron Mroske, Sha Tang, Kristen Rasmussen, Zöe Powis, Elizabeth McPherson, Deepali N. Shinde, Hsiao-Mei Lu, Ruth M. Baxter, Robert Huether
المصدر: BMC Medical Genetics
مصطلحات موضوعية: Male, Autism, Developmental Disabilities, Germline mosaicism, Case Report, Missense alteration, Biology, ASD, Germline, Young Adult, Germline mutation, Intellectual Disability, Gonadal mosaicism, Testis, medicine, Genetics, Missense mutation, Macrocephaly, Humans, Gain-of-function, Exome, Genetics(clinical), Megalencephaly, Autistic Disorder, Child, Genetics (clinical), Exome sequencing, PI3K/AKT/mTOR pathway, Germ-Line Mutation, Mosaicism, MTOR, Siblings, TOR Serine-Threonine Kinases, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Diagnostic exome sequencing, medicine.disease, Cancer research, Family-trio