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1دورية أكاديمية
المؤلفون: Scala, Marcello, Nishikawa, Masashi, Ito, Hidenori, Tabata, Hidenori, Khan, Tayyaba, Accogli, Andrea, Davids, Laura, Ruiz, Anna, Chiurazzi, Pietro, Cericola, Gabriella, Schulte, Björn, Monaghan, Kristin G, Begtrup, Amber, Torella, Annalaura, Pinelli, Michele, Denommé-Pichon, Anne Sophie, Vitobello, Antonio, Racine, Caroline, Mancardi, Maria Margherita, Kiss, Courtney, Guerin, Andrea, Wu, Wendy, Gabau Vila, Elisabeth, Mak, Bryan C, Martinez-Agosto, Julian A, Gorin, Michael B, Duz, Bugrahan, Bayram, Yavuz, Carvalho, Claudia MB, Vengoechea, Jaime E, Chitayat, David, Tan, Tiong Yang, Callewaert, Bert, Kruse, Bernd, Bird, Lynne M, Faivre, Laurence, Zollino, Marcella, Biskup, Saskia, Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Striano, Pasquale, Nigro, Vincenzo, Severino, Mariasavina, Capra, Valeria, Costain, Gregory, Nagata, Koh Ichi
المصدر: Brain : a journal of neurology. 145(9)
مصطلحات موضوعية: Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Neurons, Animals, Humans, Mice, rac GTP-Binding Proteins, Phenotype, p21-Activated Kinases, Neurodevelopmental Disorders, RAC3, axon guidance, brain development, neuronal migration, small GTPase, Neurosciences, Pediatric, Congenital Structural Anomalies, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, RAC3, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/6xw4z6x0
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2دورية أكاديمية
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3دورية أكاديمية
المؤلفون: Jessica Guzman, Elizabeth Lee, David Draper, Zaheer Valivullah, Guoyun Yu, Murat Sincan, William A. Gahl, David R. Adams
المصدر: Children, Vol 2, Iss 3, Pp 342-357 (2015)
مصطلحات موضوعية: informatics, UDPICS, Undiagnosed Diseases Program, Undiagnosed Diseases Network, rare disease, collaboration software, Pediatrics, RJ1-570
وصف الملف: electronic resource
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المؤلفون: Scala, M., Nishikawa, M., Ito, H., Tabata, H., Khan, T., Accogli, A., Davids, L., Ruiz, A., Chiurazzi, Pietro, Cericola, G., Schulte, B., Monaghan, K. G., Begtrup, A., Torella, A., Pinelli, M., Denomme-Pichon, A. -S., Vitobello, A., Racine, C., Mancardi, M. M., Kiss, C., Guerin, A., Wu, W., Vila, E. G., Mak, B. C., Martinez-Agosto, J. A., Gorin, M. B., Duz, B., Bayram, Y., Carvalho, C. M. B., Vengoechea, J. E., Chitayat, D., Tan, T. Y., Callewaert, B., Kruse, B., Bird, L. M., Faivre, L., Zollino, Marcella, Biskup, S., Striano, P., Nigro, V., Severino, M., Capra, V., Costain, G., Nagata, K. -I., Brown, G., Butte, M. J., Dell'Angelica, E. C., Dorrani, N., Douine, E. D., Fogel, B. L., Gutierrez, I., Huang, A., Krakow, D., Lee, H., Loo, S. K., Martin, M. G., Mcgee, E., Nelson, S. F., Nieves-Rodriguez, S., Palmer, C. G. S., Papp, J. C., Parker, N. H., Renteria, G., Sinsheimer, J. S., Wan, J., Wang, L. -K., Perry, K. W., Brunetti-Pierri, N., Casari, G., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Leuzzi, V., Selicorni, A., Maitz, S., Banfi, S., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., Peron, A., Pantaleoni, C., Castello, R., D'Arrigo, S.
المساهمون: Scala, Marcello, Nishikawa, Masashi, Ito, Hidenori, Tabata, Hidenori, Khan, Tayyaba, Accogli, Andrea, Davids, Laura, Ruiz, Anna, Chiurazzi, Pietro, Cericola, Gabriella, Schulte, Björn, Monaghan, Kristin G, Begtrup, Amber, Torella, Annalaura, Pinelli, Michele, Denommé-Pichon, Anne Sophie, Vitobello, Antonio, Racine, Caroline, Mancardi, Maria Margherita, Kiss, Courtney, Guerin, Andrea, Wu, Wendy, Gabau Vila, Elisabeth, Mak, Bryan C, Martinez-Agosto, Julian A, Gorin, Michael B, Duz, Bugrahan, Bayram, Yavuz, Carvalho, Claudia M B, Vengoechea, Jaime E, Chitayat, David, Tan, Tiong Yang, Callewaert, Bert, Kruse, Bernd, Bird, Lynne M, Faivre, Laurence, Zollino, Marcella, Biskup, Saskia, Striano, Pasquale, Nigro, Vincenzo, Severino, Mariasavina, Capra, Valeria, Costain, Gregory, Nagata, Koh Ichi, Nagata, Koh-Ichi
المصدر: Brain : a journal of neurology, vol 145, iss 9
BRAINمصطلحات موضوعية: brain development, Settore MED/03 - GENETICA MEDICA, Medical and Health Sciences, Telethon Undiagnosed Diseases Program, Mice, Neurodevelopmental Disorder, Medicine and Health Sciences, Animals, Humans, 2.1 Biological and endogenous factors, Aetiology, Neurons, Pediatric, neuronal migration, Neurology & Neurosurgery, Animal, axon guidance, Psychology and Cognitive Sciences, p21-Activated Kinase, Neurosciences, Biology and Life Sciences, Undiagnosed Diseases Network, Neuron, rac GTP-Binding Proteins, Brain Disorders, RAC3, Phenotype, p21-Activated Kinases, Neurodevelopmental Disorders, small GTPase, Neurological, Congenital Structural Anomalies, Neurology (clinical), Human
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3083a328f38c58a75d1e27b4ff06949
https://escholarship.org/uc/item/6xw4z6x0 -
5دورية أكاديمية
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6دورية أكاديمية
المؤلفون: Duan, Xiaohong, Markello, Thomas, Adams, David, Toro, Camilo, Tifft, Cynthia, Gahl, William A., Boerkoel, Cornelius F.
المصدر: Frontiers of Medicine. September 2013 7(3):389-394
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7دورية أكاديمية
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المؤلفون: Ellen Macnamara, Tulay Tos, Xiaofei Song, Michele Nehrebecky, Thomas C. Markello, Ender Karaca, Xenia Chepa-Lotrea, Zineb Ammous, Davut Pehlivan, James R. Lupski, Claudia Gonzaga-Jauregui, Kevin A. Strauss, Jennifer E. Posey, Erik G. Puffenberger, Marie Morimoto, Emyr Lloyd-Evans, David R. Adams, Helen Waller-Evans, Akiko Amagata, William A. Gahl, Sedat Isikay, John D. Overton, C. Christopher Lau, Zeynep Coban-Akdemir, Matthew Klein, Charles R. Holst, Karlla W. Brigatti, May Christine V. Malicdan, Emily Maguire
المساهمون: HKÜ, Sağlık Bilimleri Fakültesi, Fizyoterapi ve Rehabilitasyon Bölümü
مصطلحات موضوعية: 0301 basic medicine, Endoplasmic reticulum, Biology, Transmembrane protein, Hypotonia, Cell biology, Synaptic vesicle exocytosis, Pathogenesis, 03 medical and health sciences, 030104 developmental biology, Report, UNDIAGNOSED DISEASES PROGRAM, CALCIUM-BINDING PROTEINS, ENDOPLASMIC-RETICULUM, CONSTITUTIVE ACTIVATION, TRANSMEMBRANE PROTEIN, ER STRESS, MUTATIONS, MUSCLE, IDENTIFICATION, CALRETICULIN, Genetics, medicine, Secretion, medicine.symptom, Genetics (clinical), Homeostasis, Intracellular
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0506e327ee30366072e04694c0da79a9
https://europepmc.org/articles/PMC6218603/ -
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المؤلفون: Elise Valkanas, Jessica Guzman, Emma Mosbrook, Murat Sincan, Elizabeth M. J. Lee, Karen Xu, Cynthia J. Tifft, Camillo Toro, Elise D. Flynn, David R. Adams, Amanda E. Links, Cornelius F. Boerkoel, William A. Gahl
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, PharmGKB, precision medicine, 030105 genetics & heredity, Bioinformatics, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Secondary findings, SNP genotypes, Medicine, SNP, Humans, Exome, Genetics (clinical), Incidental Findings, business.industry, personalized medicine, Genomics, Precision medicine, NIH Undiagnosed Diseases Program, United States, SNP genotyping, 030104 developmental biology, National Institutes of Health (U.S.), Pharmacogenetics, Pharmacogenomics, Cohort, business, exome sequencing
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10دورية أكاديمية
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