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1
المؤلفون: Djg Mackay, Andrea Riccio, Zeynep Tümer, Matthias Begemann, Lukas Soellner, Irene Netchine, Karen Grønskov, Eamonn R. Maher, Agnès Linglart, Dave Nicholas Monk, I K Temple, Thomas Eggermann
المصدر: Clinical Genetics. 91:3-13
مصطلحات موضوعية: 0301 basic medicine, Genetics, Genetic counseling, Point mutation, Locus (genetics), 030105 genetics & heredity, Biology, medicine.disease, Phenotype, Uniparental disomy, 03 medical and health sciences, 030104 developmental biology, medicine, Copy-number variation, Epigenetics, Imprinting (psychology), Genetics (clinical)
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2
المؤلفون: Rosemary Bayly, I. Karen Temple, Trevor Cole, Eamonn R. Maher, Margaret Elliott
المصدر: Clinical Genetics. 46:168-174
مصطلحات موضوعية: Adult, Heart Defects, Congenital, Male, Pediatrics, medicine.medical_specialty, Polyhydramnios, Beckwith-Wiedemann Syndrome, Adolescent, Intelligence, Beckwith–Wiedemann syndrome, Neoplasms, Internal medicine, Genetics, Humans, Medicine, Child, Hemihypertrophy, Growth Disorders, Genetics (clinical), Polydactyly, business.industry, Abdominal wall defect, Infant, Newborn, Infant, medicine.disease, Penetrance, Hypoglycemia, Pedigree, Endocrinology, Child, Preschool, Nephromegaly, Female, medicine.symptom, business, Visceromegaly
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3
المؤلفون: T Forshew, L Tee, S Khaliq, Eamonn R. Maher, S. Q. Mehdi, U Smith, CA Johnson
المصدر: Clinical Genetics. 68:182-184
مصطلحات موضوعية: Genetics, Monophenol monooxygenase, medicine, Albinism, TYRP1, Consanguinity, Biology, medicine.disease, Oculocutaneous albinism, Molecular biology, Genetics (clinical)