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المؤلفون: Michael J. Bamshad, George McGillivray, Thao Tran, Rachel B. Keller, Peter H. Byers, Melanie Pepin, Ravi Savarirayan, Shawna M. Pyott, Deborah A. Nickerson
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, Genotype, DNA Mutational Analysis, Nerve Tissue Proteins, osteogenesis imperfecta, Biology, medicine.disease_cause, Severity of Illness Index, Collagen Type I, Ultrasonography, Prenatal, Article, CREB3L1, 03 medical and health sciences, 0302 clinical medicine, Genetic variation, medicine, Humans, COPII, Genetic Predisposition to Disease, Amino Acid Sequence, Allele, Cyclic AMP Response Element-Binding Protein, Gene, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, Genetics, Mutation, OASIS, OI, Genetic Variation, Sequence Analysis, DNA, medicine.disease, Phenotype, Pedigree, Radiography, secretion, 030104 developmental biology, bone development, Osteogenesis imperfecta, 030217 neurology & neurosurgery