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المؤلفون: Carolyn Y. Ho, John Garcia, Tami Johnston, Joseph Maleszewski, Alexander Ing, Matteo Vatta, Ray E. Hershberger, Lucas Bronicki, James S. Ware, Arjun K. Manrai, Jodie Ingles, Cardiomyopathy Variant Curation Expert Panel, Gabriele Richard, Olga Jarinova, Lisa Mahanta, Melissa A. Kelly, Tom Winder, Birgit Funke, Christopher Semsarian, K Thomson, Matthew S. Lebo, Allison L. Cirino, Michael Fietz, Mitzi L. Murray, Christina Austin-Tse, Christian Antolik, C. Lisa Kurtz, Linnea M. Baudhuin, Ana Morales, Daniela Macaya, Megan H. Hawley
المصدر: The Journal of Molecular Diagnostics : JMD
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, MEDLINE, Cardiomyopathy, Data field, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, Databases, Genetic, medicine, Humans, Medical physics, Genetic Testing, Genetic testing, Retrospective Studies, Data collection, medicine.diagnostic_test, business.industry, Genome, Human, Hypertrophic cardiomyopathy, Genetic Variation, Regular Article, Genomics, Requisition, Cardiomyopathy, Hypertrophic, Middle Aged, medicine.disease, Data set, 030104 developmental biology, Phenotype, 030220 oncology & carcinogenesis, Molecular Medicine, Female, business
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المؤلفون: William B. Dobyns, Michael O. Dorschner, Joshua W. Osbun, Louis J. Kim, Tina Busald, Luis F. Gonzalez-Cuyar, Christopher J. Hale, Yigit Karasozen, Peter H. Byers, Diana Alcantra, Mark O'Driscoll, Manuel A. R. Ferreira, Carolina Parada, Mitzi L. Murray, Philip D. Tatman
المصدر: Neurosurgery. 66:310-677
مصطلحات موضوعية: business.industry, Somatic cell, Platelet-Derived Growth Factor Receptor Beta, Cancer research, Medicine, Surgery, Neurology (clinical), business
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المؤلفون: Philip D. Tatman, William B. Dobyns, Luis F. Gonzalez-Cuyar, Michael O. Dorschner, Joshua W. Osbun, Mitzi L. Murray, Yigit Karasozen, Christopher J. Hale, Mark O'Driscoll, Diana Alcantara, Manuel Ferreira, Louis J. Kim, Tina Busald, Carolina Parada, Peter H. Byers
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Somatic cell, Sequence Homology, PDGFRB, Fusiform Aneurysm, RB024, Biology, QH460, RB127, Cohort Studies, Receptor, Platelet-Derived Growth Factor beta, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Aneurysm, Growth factor receptor, Report, Genetics, medicine, Humans, Amino Acid Sequence, Child, Protein kinase B, Exome, Genetics (clinical), Exome sequencing, QP0001, Intracranial Aneurysm, QM0531, medicine.disease, 030104 developmental biology, Mutation, Cancer research, Female, QH0447, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e49c8a321d692b14647b59ae90b0458
http://sro.sussex.ac.uk/id/eprint/83472/5/PDGFRB_AJHG-D-18-00485R4_manuscript.pdf -
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المؤلفون: Dru Leistritz-Kessler, Ulrike Schwarze, Samuel S. Bailey, Mitzi L. Murray, Melanie Pepin, Peter H. Byers
المصدر: Genetics in Medicine. 18:20-24
مصطلحات موضوعية: 0301 basic medicine, Protein structure and function, Genetics, medicine.diagnostic_test, Interpretation (philosophy), Concordance, Genetic Variation, Reproducibility of Results, Sequence Analysis, DNA, Computational biology, Biology, 03 medical and health sciences, 030104 developmental biology, Gene Frequency, Data Interpretation, Statistical, Clinical information, medicine, Humans, Genetic Testing, Diagnostic laboratory, Allele frequency, Genetic Association Studies, Genetics (clinical), Sequence (medicine), Genetic testing
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المؤلفون: Nedaa Skeik, Sydney L. Olson, Mitzi L. Murray
المصدر: Annals of Vascular Surgery. 61:472.e9-472.e13
مصطلحات موضوعية: Adult, Male, Decreased life expectancy, Connective tissue, 030204 cardiovascular system & hematology, Bioinformatics, 030218 nuclear medicine & medical imaging, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Genetic Predisposition to Disease, Frameshift Mutation, Genetic testing, Aspirin, medicine.diagnostic_test, business.industry, Anti-Inflammatory Agents, Non-Steroidal, General Medicine, medicine.disease, Uterine rupture, Procollagen peptidase, Collagen Type III, Phenotype, Treatment Outcome, medicine.anatomical_structure, Ehlers–Danlos syndrome, Etiology, Fluid Therapy, Ehlers-Danlos Syndrome, Surgery, Cardiology and Cardiovascular Medicine, business
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المؤلفون: Margaret H. Yang, Peter H. Byers, Mitzi L. Murray, Christine Fauth
المصدر: American Journal of Medical Genetics Part A. 164:1750-1755
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Hearing loss, DNA Mutational Analysis, Gastroenterology, Inferior mesenteric artery, Short stature, Mesenteric Artery, Superior, Celiac artery, Internal medicine, medicine.artery, Mesenteric Vascular Occlusion, Genetics, medicine, Humans, Superior mesenteric artery, Myopathy, Kyphoscoliosis, Genetic Association Studies, Genetics (clinical), business.industry, Facies, Peptidylprolyl Isomerase, medicine.disease, Pedigree, Phenotype, Ehlers–Danlos syndrome, Mutation, Ehlers-Danlos Syndrome, medicine.symptom, business, Magnetic Resonance Angiography
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المؤلفون: Mitzi L. Murray, Peter H. Byers
المصدر: Matrix Biology. 33:10-15
مصطلحات موضوعية: Joint hypermobility, Pathology, medicine.medical_specialty, Fibrillar Collagens, Biology, medicine.disease, Bioinformatics, Extracellular Matrix, Ehlers–Danlos syndrome, medicine, Animals, Humans, Ehlers-Danlos Syndrome, Proteoglycans, Molecular Biology
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المؤلفون: Mitzi L. Murray, Peter H. Byers, Emily Youngblom
المصدر: The Journal of law, medicineethics : a journal of the American Society of Law, MedicineEthics. 44(3)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, MEDLINE, Dentistry, 030105 genetics & heredity, 03 medical and health sciences, Fractures, Bone, 0302 clinical medicine, Unknown Significance, Physicians, Surveys and Questionnaires, medicine, Humans, 030212 general & internal medicine, Genetic Testing, Clinical care, Child, Genetic testing, medicine.diagnostic_test, business.industry, Health Policy, General Medicine, Osteogenesis Imperfecta, medicine.disease, Test (assessment), Issues, ethics and legal aspects, Osteogenesis imperfecta, Family medicine, Differential diagnosis, business
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المؤلفون: Daiva Nevidomskyte, Peter H. Byers, Gabriel S. Aldea, Ulrike Schwarze, Mitzi L. Murray, Benjamin W. Starnes, Sherene Shalhub
المصدر: Annals of vascular surgery. 41
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Younger sister, Computed Tomography Angiography, DNA Mutational Analysis, 030204 cardiovascular system & hematology, 03 medical and health sciences, Blood Vessel Prosthesis Implantation, 0302 clinical medicine, Aneurysm, Medicine, Humans, In patient, Genetic Predisposition to Disease, cardiovascular diseases, Smad3 Protein, Mammary Arteries, Computed tomography angiography, Loeys-Dietz Syndrome, medicine.diagnostic_test, business.industry, Endovascular Procedures, General Medicine, Middle Aged, medicine.disease, Surgery, 030104 developmental biology, Phenotype, Treatment Outcome, Mutation (genetic algorithm), Mutation, cardiovascular system, Mammary artery, Female, Radiology, Presentation (obstetrics), Cardiology and Cardiovascular Medicine, business, Vasculitis
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المؤلفون: Mitzi L. Murray, Gordana Juric-Sekhar, Ian A. Glass, Raj P. Kapur, Shawn E. Parnell, Robert F. Hevner
المصدر: Acta Neuropathologica. 121:545-554
مصطلحات موضوعية: Calbindins, Microcephaly, Dwarfism, Lissencephaly, Biology, Osteochondrodysplasias, Corpus callosum, Article, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, S100 Calcium Binding Protein G, Neurofilament Proteins, Glial Fibrillary Acidic Protein, medicine, Humans, Genetic Testing, Neurologic Examination, Temporal cortex, Fetal Growth Retardation, Pachygyria, Brain, Infant, Anatomy, medicine.disease, Radiography, medicine.anatomical_structure, Heterotopia (medicine), Cerebral cortex, Calbindin 2, Female, Neurology (clinical), Microtubule-Associated Proteins, Malformations of Cortical Development, Group II