Хайлтын үр дүнгүүд - Małgorzata M.J. Nowaczyk
- 3-н 1 - 3 үр дүнгүүдийг харуулж байна
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Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders -н Patrícia B. S. Celestino-Soper, Cindy Skinner, Richard J. Schroer, Patricia A. Eng, Jayant Shenai, Małgorzata M.J. Nowaczyk, Deborah Terespolsky, Donna Cushing, Gayle Patel, LaDonna Immken, Alecia Willis, Joanna Wiszniewska, Reuben Matalon, Jill A. Rosenfeld, Roger E. Stevenson, Sung-Hae L. Kang, Sau Wai Cheung, Arthur L. Beaudet, Paweł Stankiewicz
Хэвлэсэн 2012Artigo -
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 -н Paweł Stankiewicz, Partha Sen, Samarth Bhatt, Mekayla A. Storer, Zhilian Xia, Bassem A. Bejjani, Zhishuo Ou, Joanna Wiszniewska, Daniel J. Driscoll, Juan M. Bolívar, Mislen Bauer, Elaine H. Zackai, Donna M. McDonald‐McGinn, Małgorzata M.J. Nowaczyk, Mitzi L. Murray, 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
Хэвлэсэн 2009Artigo -
3
Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations -н Paweł Stankiewicz, Partha Sen, Samarth Bhatt, Mekayla A. Storer, Zhilian Xia, Bassem A. Bejjani, Zhishuo Ou, Joanna Wiszniewska, Daniel J. Driscoll, Melissa K. Maisenbacher, Juan M. Bolívar, Mislen Bauer, Elaine H. Zackai, Donna M. McDonald‐McGinn, Małgorzata M.J. Nowaczyk, Mitzi L. Murray, Virginia A. Hustead, Kristin Mascotti, Regina Schultz, Lavinia Hallam, D. Harold McRae, Andrew G. Nicholson, Robert Newbury, Jane Durham-O'Donnell, G. R. Knight, Usha Kini, Tamim H. Shaikh, Vicki Martin, Matthew Tyreman, Ingrid Simonic, Lionel Willatt, Joan Paterson, Sarju Mehta, C. Jones, Diana Rajan, Tomas Fitzgerald, Susan Gribble, Elena Prigmore, Ankita Patel, Lisa G. Shaffer, Nigel P. Carter, Sau Wai Cheung, Claire Langston, Charles Shaw‐Smith
Хэвлэсэн 2009Artigo
Хайх хэрэгслүүд:
Холбогдох сэдвүүд
Biology
Gene
Genetics
Frameshift mutation
Phenotype
Autism
Autism spectrum disorder
Candidate gene
Chromosome
Comparative genomic hybridization
Developmental disorder
Global developmental delay
Haploinsufficiency
Human genetics
Hypotonia
Intellectual disability
Medicine
Missense mutation
Mutation
Nonsense
Nonsense mutation
Pediatrics
Proband
Psychiatry
Psychology
Speech delay