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Akademický článek
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Autor:
Kathy Moran
Publikováno v:
Genetics in Medicine. 22:238-239
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 172:72-75
Autor:
Hillman, Richard J.
Publikováno v:
American Scientist, 1980 Mar 01. 68(2), 222-222.
Externí odkaz:
https://www.jstor.org/stable/29773807
Autor:
Zhang Y; Department of Biometrics, Vertex Pharmaceuticals Inc, Boston, Massachusetts, USA., Chu C; Department of Biometrics, Vertex Pharmaceuticals Inc, Boston, Massachusetts, USA., Beckman RA; Departments of Oncology and of Biostatistics Bioinformatics, and Biomathematics, Lombardi Comprehensive Cancer Center and Innovation Center for Biomedical Informatics, Georgetown University Medical Center, Washington, USA., Gao L; Department of Biostatisticis and Programming, Moderna, Cambridge, Massachusetts, USA., Laird G; Department of Biometrics, Vertex Pharmaceuticals Inc, Boston, Massachusetts, USA., Yi B; Department of Biometrics, Vertex Pharmaceuticals Inc, Boston, Massachusetts, USA.
Publikováno v:
Journal of biopharmaceutical statistics [J Biopharm Stat] 2024 Mar; Vol. 34 (2), pp. 205-221. Date of Electronic Publication: 2023 Mar 29.
Autor:
Zhang W; Bristol Myers Squibb, Madison, New Jersey, USA., Laird G; Vertex Pharmaceuticals, Boston, Massachusetts, USA., Chen J; Vertex Pharmaceuticals, Boston, Massachusetts, USA., Yuan Y; Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Publikováno v:
Statistics in medicine [Stat Med] 2024 Jan 15; Vol. 43 (1), pp. 173-183. Date of Electronic Publication: 2023 Nov 08.
Autor:
Shah S; Australian Centre for Ecogenomics, School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, QLD 4072, Australia., Dougan KE; Australian Centre for Ecogenomics, School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, QLD 4072, Australia., Chen Y; Australian Centre for Ecogenomics, School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, QLD 4072, Australia., Lo R; Australian Centre for Ecogenomics, School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, QLD 4072, Australia., Laird G; Australian Centre for Ecogenomics, School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, QLD 4072, Australia., Fortuin MDA; Australian Centre for Ecogenomics, School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, QLD 4072, Australia., Rai SK; Genome Innovation Hub, The University of Queensland, Brisbane, QLD 4072, Australia., Murigneux V; Genome Innovation Hub, The University of Queensland, Brisbane, QLD 4072, Australia., Bellantuono AJ; Biomolecular Science Institute, Department of Biological Sciences, Florida International University, Miami, FL 33099, United States., Rodriguez-Lanetty M; Biomolecular Science Institute, Department of Biological Sciences, Florida International University, Miami, FL 33099, United States., Bhattacharya D; Department of Biochemistry and Microbiology, Rutgers University, New Brunswick, NJ 08901, United States., Chan CX; Australian Centre for Ecogenomics, School of Chemistry and Molecular Biosciences, The University of Queensland, Brisbane, QLD 4072, Australia.
Publikováno v:
The ISME journal [ISME J] 2024 Jan 08; Vol. 18 (1).
Akademický článek
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Autor:
Carlos Ferreira, Tommy Hu, Monisha S. Kisling, Holly Dubbs, Vorasuk Shotelersuk, Lynne M. Bird, Danilo Moretti-Ferreira, Kisha D. Johnson, Kate Clarkson, Paul W.K. Wong, Carol A. Crowe, André Mégarbané, Paul Kruszka, Shubha R. Phadke, Ambroise Wonkam, Victoria Mok Siu, Nirmala D. Sirisena, David B. Everman, Ian D. Krantz, Marie T. McDonald, Elizabeth Roeder, Eyby Leon, Usha Pinakin Dave, E.V. Badoe, Antonie D. Kline, Katta M. Girisha, Leah Dowsett, Maximilian Muenke, Fuki M. Hisama, Kwame Anyane-Yeoba, Antonio R. Porras, Cedrik Tekendo-Ngongang, Meow-Keong Thong, Naoki Hamajima, Pranoot Tanpaiboon, Annette Uwineza, Brandon Davis, Sarah E. Raible, Shalini S. Nayak, Maninder Kaur, Vajira H. W. Dissanayake, Leticia Cassimiro Batista, Jessica Worthington, Matthew A. Deardorff, Eloise J. Prijoles, Virginia Kimonis, Louanne Hudgins, Anju Shukla, Roger E. Stevenson, Karen Fieggen, Greta Gillies, Laird G. Jackson, Leon Mutesa, Engela Honey, Zornitza Stark, Ann Ades, Sulgana Saitta, Robin D. Clark, Marius George Linguraru, Marshall L. Summar, Laurie A. Demmer, Diane Masser-Frye, Patrick Willems, Emanuela Salzano, Stavit A. Shalev
Publikováno v:
American Journal of Medical Genetics Part A. 179:150-158
Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short no