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1دورية أكاديمية
المؤلفون: Dineika Chandrananda, Natalie P Thorne, Devika Ganesamoorthy, Damien L Bruno, Yuval Benjamini, Terence P Speed, Howard R Slater, Melanie Bahlo
المصدر: PLoS ONE, Vol 9, Iss 1, p e86993 (2014)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Elena J Tucker, Bas F J Wanschers, Radek Szklarczyk, Hayley S Mountford, Xiaonan W Wijeyeratne, Mariël A M van den Brand, Anne M Leenders, Richard J Rodenburg, Boris Reljić, Alison G Compton, Ann E Frazier, Damien L Bruno, John Christodoulou, Hitoshi Endo, Michael T Ryan, Leo G Nijtmans, Martijn A Huynen, David R Thorburn
المصدر: PLoS Genetics, Vol 9, Iss 12, p e1004034 (2013)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Ryan N Traylor, Damien L Bruno, Trent Burgess, Robert Wildin, Anne Spencer, Devika Ganesamoorthy, David J Amor, Matthew Hunter, Michael Caplan, Jill A Rosenfeld, Aaron Theisen, Beth S Torchia, Lisa G Shaffer, Blake C Ballif, Howard R Slater
المصدر: PLoS ONE, Vol 5, Iss 8, p e12462 (2010)
وصف الملف: electronic resource
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4
المؤلفون: Chan-Eng Chong, Quenten Schwarz, Hamish S. Scott, Christopher P. Barnett, Young Kyung Lee, Jinghua Feng, Damien L. Bruno, Christopher N. Hahn, Andrew J McPhee, Jill Lipsett, Nathalie Nataren, Manuela Klingler-Hoffmann, Andreas W. Schreiber
المصدر: Human Mutation. 37:955-963
مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, Ectrodactyly, Fibroblast growth factor receptor 2, Genetic heterogeneity, Biology, medicine.disease_cause, medicine.disease, Phenotype, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, medicine, Missense mutation, Genetics (clinical), Exome sequencing, SNP array
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5
المؤلفون: George McGillivray, Eryn Dow, Clare J. Love, Sebastian Lunke, Damien L. Bruno, Alison D Archibald, John Christodoulou, Nicola Flowers, Olivia Giouzeppos, Mark D. Pertile, Grace Shi, Meg Wall
المصدر: Pathology. 52:S27
مصطلحات موضوعية: Oncology, medicine.medical_specialty, business.industry, Internal medicine, Non invasive, medicine, medicine.disease, business, Metastatic breast cancer, Pathology and Forensic Medicine
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6
المؤلفون: Alison Skene, John B. Whitlam, John Kanellis, Howard R. Slater, Damien L. Bruno, Ling Ling, David A. Power, Francseco L. Ierino
المصدر: American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons. 19(4)
مصطلحات موضوعية: Nephrology, Adult, Graft Rejection, Male, medicine.medical_specialty, Urology, 030230 surgery, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Biopsy, Immunology and Allergy, Medicine, Humans, Transplantation, Homologous, Pharmacology (medical), Prospective Studies, Prospective cohort study, Kidney transplantation, Transplantation, Kidney, medicine.diagnostic_test, business.industry, Middle Aged, medicine.disease, Kidney Transplantation, surgical procedures, operative, medicine.anatomical_structure, Cross-Sectional Studies, Cell-free fetal DNA, Biomarker (medicine), Female, business, Cell-Free Nucleic Acids, Immunosuppressive Agents
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7
المؤلفون: David J. Amor, Claudine Kraan, Bruce Bennetts, Sylvia A Metcalfe, Ralph Oertel, Tiffany Wotton, Alison D Archibald, David E. Godler, Damien L. Bruno, Michael Field, Melanie J Smith, Louise Christie, Quang M. Bui, David Francis, Desirée du Sart
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 20(12)
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Adolescent, Developmental Disabilities, Population, Prevalence, 03 medical and health sciences, Fragile X Mental Retardation Protein, medicine, Humans, Genetic Testing, Allele, education, Child, Genetics (clinical), Alleles, Genetic testing, Newborn screening, education.field_of_study, Sex Characteristics, medicine.diagnostic_test, business.industry, Infant, Newborn, Infant, medicine.disease, Fragile X syndrome, 030104 developmental biology, Genetics, Population, Child, Preschool, Fragile X Syndrome, Cohort, Mutation, Medical genetics, Female, business, Trinucleotide Repeat Expansion, Demography
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8
المصدر: Prenatal Diagnosis. 35:986-989
مصطلحات موضوعية: Pregnancy, business.industry, Maternal Serum Screening Tests, Non invasive, Gene duplication, Obstetrics and Gynecology, Medicine, business, medicine.disease, Bioinformatics, Genetics (clinical), Segmental duplication, Test (assessment)
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9
المؤلفون: Damien L. Bruno, Sue Forrest, Alison Skene, Devika Ganesamoorthy, Howard R. Slater, Natalie P. Thorne, David A. Power, Ling Ling, Marieke Veenendaal, Frank L. Ierino, Marina Katerelos, Melanie Bahlo
المصدر: Clinical Chemistry. 60:1105-1114
مصطلحات موضوعية: Genetics, Massive parallel sequencing, DNA Copy Number Variations, Chimera, Base pair, Biochemistry (medical), Clinical Biochemistry, Reproducibility of Results, Biology, Y chromosome, Polymerase Chain Reaction, Molecular biology, DNA sequencing, law.invention, Real-time polymerase chain reaction, Cell-free fetal DNA, Limit of Detection, law, Humans, Human genome, Polymerase chain reaction
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10
المؤلفون: Ralph Oertel, Susan M. White, Christine Sanderson, Andrew J. Kornberg, Howard R. Slater, Julian K Kelly, Ravi Savarirayan, Vanessa Calabro, Trent Burgess, Rupert Hinds, Belinda Chong, Katherine B. Howell, Damien L. Bruno, Natasha J Brown, Anthea Greenway, Zornitza Stark
المصدر: American Journal of Medical Genetics Part A. 164:77-86
مصطلحات موضوعية: Male, Heterozygote, Pediatrics, medicine.medical_specialty, Adolescent, Anemia, Polymorphism, Single Nucleotide, Short stature, Intellectual disability, Genetics, Humans, Medicine, Abnormalities, Multiple, Diamond–Blackfan anemia, Child, Genetics (clinical), Cognitive deficit, Dextrocardia, Chromosomes, Human, Pair 15, Comparative Genomic Hybridization, business.industry, Chromosome Mapping, Infant, Congenital diaphragmatic hernia, Syndrome, medicine.disease, Obstructive sleep apnea, Phenotype, Child, Preschool, Female, Chromosome Deletion, medicine.symptom, business