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1
المؤلفون: Priscilla P.L. Chiu, Greg Ryan, David Chitayat, Nimrah Abbasi, Leslie Steele, Rosanna Weksberg, Cheryl Shuman, Aideen M. Moore
المصدر: Prenatal Diagnosis. 41:798-816
مصطلحات موضوعية: Adult, 0301 basic medicine, Polyhydramnios, medicine.medical_specialty, Beckwith-Wiedemann Syndrome, Genetic counseling, Beckwith–Wiedemann syndrome, Aneuploidy, Prenatal diagnosis, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, medicine, Macroglossia, Humans, Correlation of Data, Genetics (clinical), Ontario, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, Obstetrics, business.industry, Obstetrics and Gynecology, medicine.disease, Nephromegaly, Amniocentesis, Female, medicine.symptom, business, Hernia, Umbilical
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2دورية أكاديمية
المؤلفون: Tyrie, Leslie Steele, Mosenthal, Anne Charlotte
المصدر: In Anesthesiology Clinics March 2012 30(1):37-46
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3دورية أكاديمية
المؤلفون: Tyrie, Leslie Steele, Mosenthal, Anne Charlotte
المصدر: In Surgical Clinics of North America 2011 91(2):333-342
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4
المؤلفون: Nimrah Abbasi, Aideen Moore, Priscilla Chiu, Greg Ryan, Rosanna Weksberg, Cheryl Shuman, Leslie Steele, David Chitayat
المصدر: Prenatal Diagnosis. 41
مصطلحات موضوعية: Obstetrics and Gynecology, Genetics (clinical)
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5
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6
المؤلفون: Sanaa Choufani, Rosanna Weksberg, Dimitri J. Stavropoulos, Paul Thorner, Leslie Steele, Peter N. Ray, Cheryl Shuman, Raveen K. Basran, Nicole Parkinson, Ronald Grant, Armando J. Lorenzo, Jack Brzezinski
المصدر: European journal of human genetics : EJHG. 26(4)
مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, medicine.medical_specialty, 030104 developmental biology, business.industry, Correspondence, Genetics, MEDLINE, Medicine, business, Dermatology, Genetics (clinical)
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7
المؤلفون: Berivan Baskin, Paige A. Rebeiro, Leslie Steele, Peter N. Ray, Jennifer Orr, Dimitri J. Stavropoulos, Kym M. Boycott, William T. Gibson, Christian R. Marshall, Edmond G. Lemire, Martin Li
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: Duchenne muscular dystrophy, musculoskeletal diseases, replication, congenital, hereditary, and neonatal diseases and abnormalities, mRNA, rearrangement, dystrophin, Exon, Gene duplication, Genetics, medicine, MMRDR, Multiplex ligation-dependent probe amplification, Copy-number variation, Molecular Biology, Genetics (clinical), Medicinsk genetik, biology, Breakpoint, Original Articles, medicine.disease, Chromosome 4, biology.protein, Dystrophin, Medical Genetics
وصف الملف: application/pdf
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8
المؤلفون: Tanja Gonska, Melinda Solomon, Chee Y. Ooi, Sheelagh Martin, Andy Ni, Annie Dupuis, Elizabeth Tullis, Peter N. Ray, Lynda Ellis, Ruslan Dorfman, Keith Jarvi, Leslie Steele, Julian Zielenski, Mary Corey, Peter R. Durie, Paul Kortan
المصدر: Annals of the American Thoracic Society. 11:562-570
مصطلحات موضوعية: Adult, Male, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Pathology, Adolescent, Cystic Fibrosis, Genotype, Urology, Cystic Fibrosis Transmembrane Conductance Regulator, Sensitivity and Specificity, Cystic fibrosis, Cohort Studies, SWEAT, Young Adult, Paranasal Sinus Diseases, medicine, Humans, Prospective Studies, Child, Sweat, Prospective cohort study, Ion channel, Sweat test, Azoospermia, Principal Component Analysis, medicine.diagnostic_test, business.industry, Middle Aged, medicine.disease, Amiloride, Nasal Mucosa, Phenotype, Pancreatitis, Potential difference, Case-Control Studies, Female, business, Perfusion, medicine.drug
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9
المؤلفون: Stephen W. Scherer, Raveen K. Basran, Rosanna Weksberg, Dimitri J. Stavropoulos, Karen Chong, Cheryl Shuman, Vickie L. Hannig, Cheryl Cytrynbaum, Thomas Morgan, Leslie Steele, Sanaa Choufani
المصدر: American journal of medical genetics. Part A. 170(10)
مصطلحات موضوعية: 0301 basic medicine, Male, DNA Copy Number Variations, Centromere, Russell-Silver Syndrome, 030105 genetics & heredity, Biology, 03 medical and health sciences, Genomic Imprinting, Genotype, Genetics, medicine, Humans, Epigenetics, Imprinting (psychology), Genetics (clinical), Genetic Association Studies, Comparative Genomic Hybridization, Silver–Russell syndrome, Chromosomes, Human, Pair 11, Chromosome Mapping, Facies, Infant, Sequence Analysis, DNA, DNA Methylation, medicine.disease, Pedigree, Silver-Russell Syndrome, Phenotype, DNA methylation, Female, Genomic imprinting, Comparative genomic hybridization
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10
المؤلفون: Ron Agatep, Tracy Stockley, Rosanna Weksberg, Cheryl Shuman, Nicole Parkinson, Leslie Steele
المصدر: American Journal of Medical Genetics Part A. 164:2682-2684
مصطلحات موضوعية: Genetics, medicine, Germline mosaicism, Simpson–Golabi–Behmel syndrome, Multiplex ligation-dependent probe amplification, Biology, medicine.disease, Genetics (clinical)