Ludmila Francescatto Center for Human Disease Modeling Duke University Medical Center Biography Publications Institution JoVE Articles Ludmila Francescatto has not added a biography. If you are Ludmila Francescatto and would like to personalize this page please email our Author Liaison for assistance. Publications Newborn Screening and the Era of Medical Genomics Seminars in Perinatology. Dec, 2015 | Pubmed ID: 26499764 A Human Laterality Disorder Caused by a Homozygous Deleterious Mutation in MMP21 Journal of Medical Genetics. Dec, 2015 | Pubmed ID: 26429889 Exome Sequence Analysis Suggests That Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy Cell Reports. Aug, 2015 | Pubmed ID: 26257172 Missense Mutations in TENM4, a Regulator of Axon Guidance and Central Myelination, Cause Essential Tremor Human Molecular Genetics. Oct, 2015 | Pubmed ID: 26188006 Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-onset Isolated Dystonia American Journal of Human Genetics. Jun, 2015 | Pubmed ID: 26004199 Mutations in RAD21 Disrupt Regulation of APOB in Patients with Chronic Intestinal Pseudo-obstruction Gastroenterology. Apr, 2015 | Pubmed ID: 25575569 Functionally Compromised CHD7 Alleles in Patients with Isolated GnRH Deficiency Proceedings of the National Academy of Sciences of the United States of America. Dec, 2014 | Pubmed ID: 25472840 Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development Cell. Jul, 2014 | Pubmed ID: 24998929 CaMK-II Activation is Essential for Zebrafish Inner Ear Development and Acts Through Delta-Notch Signaling Developmental Biology. Sep, 2013 | Pubmed ID: 23747599 CaMK II 是 PKD2 目标,以促进 Pronephric 肾发展稳定纤毛。 Development (Cambridge, England). Aug, 2011 | Pubmed ID: 21752935 The Activation of Membrane Targeted CaMK-II in the Zebrafish Kupffer's Vesicle is Required for Left-right Asymmetry Development (Cambridge, England). Aug, 2010 | Pubmed ID: 20630945 Tbx5-mediated Expression of Ca(2+)/calmodulin-dependent Protein Kinase II is Necessary for Zebrafish Cardiac and Pectoral Fin Morphogenesis Developmental Biology. Jun, 2009 | Pubmed ID: 19345202 免疫染色磷酸化表位整装斑马鱼胚胎纤毛器官 Sarah C. Rothschild1, Ludmila Francescatto2, Robert M. Tombes1 1Department of Biology, Virginia Commonwealth University, 2Center for Human Disease Modeling, Duke University Medical Center JoVE 53747 Chimie
免疫染色磷酸化表位整装斑马鱼胚胎纤毛器官 Sarah C. Rothschild1, Ludmila Francescatto2, Robert M. Tombes1 1Department of Biology, Virginia Commonwealth University, 2Center for Human Disease Modeling, Duke University Medical Center JoVE 53747 Chimie