يعرض 1 - 2 نتائج من 2 نتيجة بحث عن '"Malgorzata M.J. Nowaczyk"', وقت الاستعلام: 0.75s 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
    Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

    المؤلفون: Patrícia B. S. Celestino-Soper, Joanna Wiszniewska, LaDonna Immken, Jill A. Rosenfeld, Cindy Skinner, Donna Cushing, Pawel Stankiewicz, Alecia Willis, Reuben Matalon, Gayle Patel, Roger E. Stevenson, Patricia A. Eng, Jayant P. Shenai, Richard J. Schroer, Arthur L. Beaudet, Sung Hae L. Kang, Sau Wai Cheung, Malgorzata M.J. Nowaczyk, Deborah Terespolsky

    المصدر: Molecular Cytogenetics
    Molecular Cytogenetics, Vol 5, Iss 1, p 17 (2012)

    مصطلحات موضوعية: medicine.medical_specialty, lcsh:QH426-470, Biology, Bioinformatics, Biochemistry, 03 medical and health sciences, Intellectual disability, mental disorders, Genetics, medicine, Genetics(clinical), Copy-number variation, Copy-number variants, Molecular Biology, Genetics (clinical), 030304 developmental biology, Biochemistry, medical, 6p deletions, 0303 health sciences, Research, 030305 genetics & heredity, Biochemistry (medical), Cytogenetics, medicine.disease, Hypotonia, Human genetics, lcsh:Genetics, Array comparative genomic hybridization, Speech delay, Molecular Medicine, Autism, medicine.symptom, Comparative genomic hybridization

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63b15d605a80f7de5186ea6711103957
    http://europepmc.org/articles/PMC3351998

    Find this article in full text from Springer Verlag. Find this article in full text from ProQuest
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