المؤلفون: Lionel, Anath C, Tammimies, Kristiina, Vaags, Andrea K, Rosenfeld, Jill A, Ahn, Joo Wook, Merico, Daniele, Noor, Abdul, Runke, Cassandra K, Pillalamarri, Vamsee K, Carter, Melissa T, Gazzellone, Matthew J, Thiruvahindrapuram, Bhooma, Fagerberg, Christina, Laulund, Lone W, Pellecchia, Giovanna, Lamoureux, Sylvia, Deshpande, Charu, Clayton-Smith, Jill, White, Ann C, Leather, Susan, Trounce, John, Bedford, H Melanie, Hatchwell, Eli, Eis, Peggy S, Yuen, Ryan KC, Walker, Susan, Uddin, Mohammed, Geraghty, Michael T, Nikkel, Sarah M, Tomiak, Eva M, Fernandez, Bridget A, Soreni, Noam, Crosbie, Jennifer, Arnold, Paul D, Schachar, Russell J, Roberts, Wendy, Paterson, Andrew D, So, Joyce, Szatmari, Peter, Chrysler, Christina, Woodbury-Smith, Marc, Lowry, R Brian, Zwaigenbaum, Lonnie, Mandyam, Divya, Wei, John, MacDonald, Jeffrey R, Howe, Jennifer L, Nalpathamkalam, Thomas, Wang, Zhuozhi, Tolson, Daniel, Cobb, David S, Wilks, Timothy M, Sorensen, Mark J, Bader, Patricia I, An, Yu, Wu, Bai-Lin, Musumeci, Sebastiano Antonino, Romano, Corrado, Postorivo, Diana, Nardone, Anna M, Della Monica, Matteo, Scarano, Gioacchino, Zoccante, Leonardo, Novara, Francesca, Zuffardi, Orsetta, Ciccone, Roberto, Antona, Vincenzo, Carella, Massimo, Zelante, Leopoldo, Cavalli, Pietro, Poggiani, Carlo, Cavallari, Ugo, Argiropoulos, Bob, Chernos, Judy, Brasch-Andersen, Charlotte, Speevak, Marsha, Fichera, Marco, Ogilvie, Caroline Mackie, Shen, Yiping, Hodge, Jennelle C, Talkowski, Michael E, Stavropoulos, Dimitri J, Marshall, Christian R, Scherer, Stephen W

المصدر: Human Molecular Genetics. 23(10)

مصطلحات موضوعية: Pediatric Research Initiative, Pediatric, Intellectual and Developmental Disabilities (IDD), Mental Health, Brain Disorders, Human Genome, Neurosciences, Autism, Clinical Research, Behavioral and Social Science, Genetics, 2.1 Biological and endogenous factors, Aetiology, Mental health, Adolescent, Adult, Attention Deficit Disorder with Hyperactivity, Case-Control Studies, Child, Child Development Disorders, Pervasive, Child, Preschool, Chromosomes, Human, Pair 9, DNA Copy Number Variations, Exons, Female, Gene Expression, Genetic Association Studies, Genetic Predisposition to Disease, Glycoproteins, Humans, Infant, Infant, Newborn, Male, Nerve Tissue Proteins, Organ Specificity, Phenotype, Polymorphism, Single Nucleotide, Protein Isoforms, Receptors, Cell Surface, Risk Factors, Sequence Deletion, Transcription Factors, Transcription Initiation Site, Tripartite Motif Proteins, Ubiquitin-Protein Ligases, Young Adult, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/59x2g1gfTest

المؤلفون: Mauro Giacca, Annamaria Staiano, Pasquale Piccolo, Ty C. Lynnes, Caterina Strisciuglio, Alfonso Valencia, Katherine G. Spoonamore, Matteo Vatta, Margherita Mutarelli, Chiara Collesi, Francesco Paolo D'Armiento, Erasmo Miele, Severo Campione, Ilaria Secco, Giuseppe Limongelli, Lorena Zentilin, Nicola Brunetti-Pierri, Tirso Pons, Gerardo Nardone, Patrícia B. S. Celestino-Soper, Sergio Attanasio, Sandro Banfi, Vincenzo Nigro, Riccardo Sangermano

المساهمون: Piccolo, Pasquale, Attanasio, Sergio, Secco, Ilaria, Sangermano, Riccardo, Strisciuglio, Caterina, Limongelli, Giuseppe, Miele, Erasmo, Mutarelli, Margherita, Banfi, Sandro, Nigro, Vincenzo, Pons, Tirso, Valencia, Alfonso, Zentilin, Lorena, Campione, Severo, Nardone, Gerardo, Lynnes, Ty C, Celestino-Soper, Patricia B S, Spoonamore, Katherine G, D'Armiento, Francesco P, Giacca, Mauro, Staiano, Annamaria, Vatta, Matteo, Collesi, Chiara, Brunetti-Pierri, Nicola, Lynnes, Ty C., Celestino Soper, Patricia B. S., Spoonamore, Katherine G., D'Armiento, Francesco P., Brunetti Pierri, Nicola, Celestino Soper, Patricia B. S

المصدر: Human Molecular Genetics. :ddw365

مصطلحات موضوعية: Male, 0301 basic medicine, Heart malformation, Ubiquitin-Protein Ligases, Mutation, Missense, Stomach Diseases, Notch signaling pathway, Biology, medicine.disease_cause, Ventricular Dysfunction, Left, 03 medical and health sciences, 0302 clinical medicine, Genetic, Molecular Biology, Genetics, Genetics (clinical), medicine, Animals, Humans, Missense mutation, Exome, Myocytes, Cardiac, HES1, Gastritis, Hypertrophic, Cells, Cultured, Exome sequencing, Mutation, Receptors, Notch, Ubiquitination, General Medicine, Pedigree, Rats, Phenotype, 030104 developmental biology, Animals, Newborn, Gene Expression Regulation, Case-Control Studies, Cancer research, Left ventricular noncompaction, Female, Cardiomyopathies, 030217 neurology & neurosurgery, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::595fdb5370ee2f673cb8217d853d3e03Test
https://doi.org/10.1093/hmg/ddw365Test