يعرض 1 - 2 نتائج من 2 نتيجة بحث عن '"Jane Durham-O'Donnell"', وقت الاستعلام: 0.90s تنقيح النتائج
  1. 1
    Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

    المؤلفون: Donna M. McDonald-McGinn, Sarju G. Mehta, Joanna Wiszniewska, Joan Paterson, Duncan McRae, Elena Prigmore, Mislen Bauer, Ingrid Simonic, Regina Schultz, Pawel Stankiewicz, Samarth Bhatt, Mitzi L. Murray, Nigel P. Carter, Robert O. Newbury, Claire Langston, Elaine H. Zackai, Melissa K. Maisenbacher, Lavinia Hallam, Tamim H. Shaikh, Matthew Tyreman, Usha Kini, Malgorzata M.J. Nowaczyk, Diana Rajan, Jane Durham-O'Donnell, Vicki Martin, Sau Wai Cheung, Zhilian Xia, Lionel Willatt, Lisa G. Shaffer, Charles Shaw-Smith, Tomas W Fitzgerald, Bassem A. Bejjani, Kristin Mascotti, Christy W. Jones, Partha Sen, Daniel J. Driscoll, Gail Knight, Ankita Patel, Juan Bolivar, Mekayla Storer, Andrew G. Nicholson, Susan M. Gribble, Virginia A. Hustead, Zhishuo Ou

    المصدر: The American Journal of Human Genetics. 85(4)

    مصطلحات موضوعية: Genetics, Alveolar capillary dysplasia, Gene cluster, medicine, Genetics(clinical), Erratum, Biology, medicine.disease, Molecular biology, Genetics (clinical)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6afa3ab054c6839b9c8650fd24d2a309

    View record from ScienceDirect
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  2. 2
    Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

    المؤلفون: Paweł, Stankiewicz, Partha, Sen, Samarth S, Bhatt, Mekayla, Storer, Zhilian, Xia, Bassem A, Bejjani, Zhishuo, Ou, Joanna, Wiszniewska, Daniel J, Driscoll, Melissa K, Maisenbacher, Juan, Bolivar, Mislen, Bauer, Elaine H, Zackai, Donna, McDonald-McGinn, Małgorzata M J, Nowaczyk, Mitzi, Murray, Virginia, Hustead, Kristin, Mascotti, Regina, Schultz, Lavinia, Hallam, Duncan, McRae, Andrew G, Nicholson, Robert, Newbury, Jane, Durham-O'Donnell, Gail, Knight, Usha, Kini, Tamim H, Shaikh, Vicki, Martin, Matthew, Tyreman, Ingrid, Simonic, Lionel, Willatt, Joan, Paterson, Sarju, Mehta, Diana, Rajan, Tomas, Fitzgerald, Susan, Gribble, Elena, Prigmore, Ankita, Patel, Lisa G, Shaffer, Nigel P, Carter, Sau Wai, Cheung, Claire, Langston, Charles, Shaw-Smith

    المصدر: The American Journal of Human Genetics. (6):780-791

    مصطلحات موضوعية: Alveolar capillary dysplasia, Male, Biology, medicine.disease_cause, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Gene cluster, medicine, Genetics, Humans, Genetics(clinical), Abnormalities, Multiple, Gene Silencing, Gene, Genetics (clinical), In Situ Hybridization, Fluorescence, 030304 developmental biology, Bronchopulmonary Dysplasia, 0303 health sciences, Mutation, Point mutation, Infant, Newborn, Chromosome, Chromosome Mapping, Infant, Forkhead Transcription Factors, medicine.disease, Molecular biology, Capillaries, Pulmonary Alveoli, Doxorubicin, Pulmonary Veins, 030220 oncology & carcinogenesis, Child, Preschool, Female, Haploinsufficiency, Chromosomes, Human, Pair 16, Gene Deletion

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88955684ebc20899cd73fa13d3ae4084

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