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المؤلفون: Deshung Liang, Anita E. Beck, Joseph Cook, Tadashi Matsumoto, Kati J. Buckingham, Siddharth Banka, Toshiro Nagai, Koh-ichiro Yoshiura, Hidefumi Tonoki, Kenji Kurosawa, Jia Woei Hou, Heidi I. S. Gildersleeve, Jill Clayton-Smith, Mark C. Hannibal, Jay Shendure, Tamim H. Shaikh, Tadashi Kaname, Graeme C.M. Black, Michael J. Bamshad, Naomichi Matsumoto, Kenji Naritomi, Jeffrey E. Ming, Heather C Mefford, Akira Sudo, Dian Donnai, Hirofumi Ohashi, Norio Niikawa, Colleen A. Morris, Margaret J. Mcmillin, Abigail W. Bigham, Tohru Ohta, Elaine H. Zackai, Deborah A. Nickerson, Sarah B. Ng, Holly K. Tabor, Noriko Miyake
المصدر: American Journal of Medical Genetics Part A. 155:1511-1516
مصطلحات موضوعية: Genotype, Biology, medicine.disease_cause, Article, Frameshift mutation, Gene Order, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Testing, Epigenetics, Allele, Alleles, Genetics (clinical), Genetic testing, Mutation, medicine.diagnostic_test, Prognosis, medicine.disease, Hematologic Diseases, Neoplasm Proteins, DNA-Binding Proteins, Phenotype, Vestibular Diseases, Face, Haploinsufficiency, Kabuki syndrome