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1دورية أكاديمية
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101269- (2024)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Lynette Lau, Edward Higginbotham, Wilson Sung, Venuja Sriretnakumar, Meredith Curtis, Caitlin Chisholm, Meredith Gillespie, Anna Pan, Sean Kim, Sean Simko, E. Magda Price, Marianne Eliou, Anna Szuto, Michelle Axford, Martin Somerville, Kym Boycott, Jean McGowan-Jordan, Melaine Beaulieu Bergeron, James Stavropoulos, Lijia Huang, Christian Marshall
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101548- (2024)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Landry Nfonsam, Lijia Huang, Nancy Carson, Jean McGowan‐Jordan, Melanie Beaulieu Bergeron, Sharan Goobie, Susan Conacher, David McCarty, Lee Benson, Stacy Hewson, Laura Zahavich, Elizabeth Sinclair‐Bourque, Amanda Smith, Ryan Potter, Mahdi Ghani, Lucas Bronicki, Olga Jarinova
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
مصطلحات موضوعية: cardiomyopathy, copy number, deletion, MYBPC3, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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المؤلفون: Alison M. R. Castle, Michele L. Ramien, Nordau Kanigsberg, Dina El Demellawy, Jean McGowan‐Jordan, Melanie Beaulieu Bergeron, Christine M. Armour
المصدر: Pediatric Dermatology. 39:107-111
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Dermatology
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المؤلفون: D Lahey, Gabrielle Mettler, Hussein Daoud, Nasim Vasli, Nathaniel Santos, Brittany Antoniuk, Caitlin Chisholm, Shelley Ordorica, Jean McGowan-Jordan, Vanessa Trudel, Amanda C. Smith, Olga Jarinova, Virginia Haslett, Heather Derksen, Mahdi Ghani, Landry Nfonsam, Robert Roberts, Ryan Potter, Martha McGill, Elizabeth Sinclair-Bourque
المصدر: The Journal of Molecular Diagnostics. 21:437-448
مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, Protocol (science), medicine.medical_specialty, Genetic heterogeneity, business.industry, Diagnostic test, Turnaround time, Multi gene, Pathology and Forensic Medicine, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, Health care, Cohort, medicine, symbols, Molecular Medicine, Intensive care medicine, business
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المؤلفون: Susan Conacher, Landry Nfonsam, Nancy Carson, Lijia Huang, Ryan Potter, Olga Jarinova, Sharan Goobie, Lee Benson, Stacy Hewson, Lucas Bronicki, Laura Zahavich, David McCarty, Melanie Beaulieu Bergeron, Amanda C. Smith, Jean McGowan-Jordan, Mahdi Ghani, Elizabeth Sinclair-Bourque
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicineمصطلحات موضوعية: Male, 0301 basic medicine, Microarray, lcsh:QH426-470, Cardiomyopathy, 030105 genetics & heredity, Left ventricular hypertrophy, 03 medical and health sciences, symbols.namesake, MYBPC3, Alu Elements, copy number, Genetics, medicine, Humans, Copy-number variation, Multiplex ligation-dependent probe amplification, cardiovascular diseases, deletion, Homologous Recombination, Molecular Biology, Genetics (clinical), Sanger sequencing, business.industry, Hypertrophic cardiomyopathy, Original Articles, Cardiomyopathy, Hypertrophic, Middle Aged, medicine.disease, lcsh:Genetics, 030104 developmental biology, symbols, cardiovascular system, Original Article, Carrier Proteins, business, Haploinsufficiency, cardiomyopathy, Gene Deletion
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المؤلفون: Melanie Lacaria, Dina El Demellawy, Jean McGowan-Jordan
المصدر: Cancer Genetics. :100-104
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Cancer Research, Oncogene Proteins, Fusion, Locus (genetics), Translocation, Genetic, Benign tumor, Fusion gene, 03 medical and health sciences, 0302 clinical medicine, HMGA2, Rare case, Genetics, medicine, Chromosomes, Human, Humans, Child, Molecular Biology, Gene, biology, HMGA2 Protein, Anatomy, Middle Aged, Lipoma, medicine.disease, Magnetic Resonance Imaging, NFI Transcription Factors, 030104 developmental biology, NFIB, Child, Preschool, Karyotyping, 030220 oncology & carcinogenesis, biology.protein, Cancer research
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المؤلفون: Dina El Demellawy, Jean McGowan-Jordan, Ahmed Nasr, Joseph de Nanassy, Elizaveta Chernetsova
المصدر: Pathology. 49:238-246
مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Oncology, medicine.medical_specialty, Pathology, Oncogene Proteins, Fusion, genetic structures, medicine.medical_treatment, Disease, Pathology and Forensic Medicine, Targeted therapy, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Rhabdomyosarcoma, medicine, Animals, Humans, Paired Box Transcription Factors, Muscle, Skeletal, Chemotherapy, Molecular pathology, business.industry, musculoskeletal, neural, and ocular physiology, Forkhead Transcription Factors, Prognosis, medicine.disease, eye diseases, Clinical trial, Regimen, 030104 developmental biology, 030220 oncology & carcinogenesis, Risk stratification, business, human activities
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المؤلفون: Jean McGowan-Jordan, Dina El Demellawy, James Lee, Ahmed Nasr, Laura M McDonell, Milton J. Finegold, Raj P. Kapur, David A. Dyment, Bo Ngan, A S Knisely
المصدر: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 22(4)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Hamartoma, Abnormal Karyotype, Biology, Pathology and Forensic Medicine, Immunophenotyping, Pathogenesis, Mesoderm, 03 medical and health sciences, 0302 clinical medicine, medicine, Neoplasm, Humans, In Situ Hybridization, Fluorescence, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, Microarray analysis techniques, Liver Neoplasms, Infant, Karyotype, General Medicine, medicine.disease, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Female, Tandem exon duplication, Fluorescence in situ hybridization
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::703fc7bb5541d6ca6a8d361aec77a490
https://pubmed.ncbi.nlm.nih.gov/30497332 -
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المؤلفون: Dina J. Zand, Michael T. Geraghty, Bob Argiropoulos, Jean McGowan-Jordan, Xu Li, Taosheng Huang, Pranesh Chakraborty, Kelly L. Adams, Emily Chen, Matthew A. Lines, Sarah E. Grams, Patricia Himes, Leesa M. Linck, Marilyn Tsang, Marthand Eswara, Dana Kostiner, Heather J. Stalker, Daniel J. Driscoll, Jill A. Rosenfeld, Kamer Tezcan
المصدر: American Journal of Medical Genetics Part A. 170:967-977
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Genotype, Sex Chromosome Disorders, Exercise intolerance, Biology, Young Adult, 03 medical and health sciences, Dysarthria, Chromosome Duplication, Intellectual disability, Gene duplication, Genetics, medicine, Humans, Precocious puberty, Child, Genetic Association Studies, Genetics (clinical), Aged, Chromosomes, Human, X, Comparative Genomic Hybridization, Chromosome Mapping, Facies, Middle Aged, medicine.disease, Pedigree, Phenotype, 030104 developmental biology, Motor delay, Speech delay, Failure to thrive, Female, medicine.symptom