المؤلفون: Sanders, Stephan, Collins, RL, Brand, H, Redin, CE, Hanscom, C, Antolik, C, Stone, MR, Glessner, JT, Mason, T, Pregno, G, Dorrani, N

URL الوصول: https://escholarship.org/uc/item/8j9649ht

المؤلفون: Mokhtarani, M, Diaz, GA, Rhead, W, Lichter-Konecki, U, Bartley, J, Feigenbaum, A, Longo, N, Berquist, W, Berry, SA, Gallagher, R, Bartholomew, D, Harding, CO, Korson, MS, McCandless, SE, Smith, W, Vockley, J, Bart, S, Kronn, D, Zori, R, Cederbaum, S, Dorrani, N, Merritt, JL, Sreenath-Nagamani, Sandesh, Summar, M, LeMons, C, Dickinson, K, Coakley, DF, Moors, TL, Lee, B, Scharschmidt, BF

المصدر: Molecular Genetics and Metabolism. 107(3)

مصطلحات موضوعية: Clinical Research, Adolescent, Adult, Ammonia, Biomarkers, Pharmacological, Child, Cross-Over Studies, Drug Administration Schedule, Female, Glutamine, Glycerol, Humans, Male, Phenylacetates, Phenylbutyrates, Urea Cycle Disorders, Inborn, Urea cycle disorders, Phenylacetic acid, Glycerol phenylbutyrate, Sodium phenylbutyrate, Phenylacetylglutamine, Phenylbutyric acid, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/73m498jm

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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
BRAIN

مصطلحات 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

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