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Deletion of Chromosome 8q22.1, A Critical Region for Nablus Mask-Like Facial Syndrome: Four Additional Cases Support A Role of Genetic Modifiers in the Manifestation of the Phenotype

AMERICAN JOURNAL OF MEDICAL GENETICS PART A(2015)

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摘要
Deletion of Chromosome 8q22.1, A Critical Region for Nablus Mask-Like Facial Syndrome: Four Additional Cases Support a Role of Genetic Modifiers in the Manifestation of the Phenotype Saumya S. Jamuar,* Hatice Duzkale, Neslihan Duzkale, Chengsheng Zhang, Frances A. High, Leonard Kaban, Soma Bhattacharya, Barbara Crandall, Sibel Kantarci, Joan M. Stoler, and Angela E. Lin Harvard Medical School Genetics Training Program, Boston, Massachussetts Department of Paediatric Medicine, KK Women’s and Children’s Hospital, Singapore Department of Medical Genetics, Yeditepe University School of Medicine, Istanbul, Turkey Department of Medical Genetics, Osmangazi University School of Medicine, Eskisehir, Turkey Department of Oral Maxillofacial Surgery, Massachusetts General Hospital, Boston, Massachussetts Department of Anesthesia, Massachusetts General Hospital, Boston, Massachussetts David Geffen School of Medicine at UCLA, Los Angeles, California Division of Genetics, Boston Children’s Hospital, Boston, Massachussets Genetics Unit, MassGeneral Hospital for Children, Boston, Massachussets
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Chromosome Duplication
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