المؤلفون: Waters, Aoife M, Asfahani, Rowan, Carroll, Paula, Bicknell, Louise, Lescai, Francesco, Bright, Alison, Chanudet, Estelle, Brooks, Anthony, Christou-Savina, Sonja, Osman, Guled, Walsh, Patrick, Bacchelli, Chiara, Chapgier, Ariane, Vernay, Bertrand, Bader, David M, Deshpande, Charu, O' Sullivan, Mary, Ocaka, Louise, Stanescu, Horia, Stewart, Helen S, Hildebrandt, Friedhelm, Otto, Edgar, Johnson, Colin A, Szymanska, Katarzyna, Katsanis, Nicholas, Davis, Erica, Kleta, Robert, Hubank, Mike, Doxsey, Stephen, Jackson, Andrew, Stupka, Elia, Winey, Mark, Beales, Philip L

المصدر: Journal of Medical Genetics. 52(3)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Pediatric, Human Genome, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Animals, Centrioles, Chromosomal Proteins, Non-Histone, Cilia, Exome, Female, Fetus, Genetics, Medical, HEK293 Cells, High-Throughput Nucleotide Sequencing, Humans, Male, Mice, Microcephaly, Microfilament Proteins, Mutation, NIH 3T3 Cells, Pedigree, Pregnancy, Zebrafish, CENPF, Ciliopathy, Clinical genetics, Molecular genetics, Medical and Health Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0xw767c6Test

المؤلفون: Lopes, Luis R., Zekavati, Anna, Syrris, Petros, Hubank, Mike, Giambartolomei, Claudia, Dalageorgou, Chrysoula, Jenkins, Sharon, McKenna, William, Plagnol, Vincent, Elliott, Perry M.

المصدر: Journal of Medical Genetics; Apr2013, Vol. 50 Issue 4, p228-239, 12p, 7 Charts, 3 Graphs

مصطلحات موضوعية: HYPERTROPHIC cardiomyopathy, CARDIOVASCULAR diseases, HEART diseases, DIAGNOSIS, SINGLE nucleotide polymorphisms, ION channels, CONNECTIN, MEMBRANE proteins