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1دورية أكاديمية
المؤلفون: Unger, Sheila, Ferreira, Carlos, Mortier, Geert, Ali, Houda, Bertola, Débora, Calder, Alistair, Cohn, Daniel, Cormier-Daire, Valerie, Girisha, Katta, Hall, Christine, Makitie, Outi, Mundlos, Stefan, Nishimura, Gen, Robertson, Stephen, Savarirayan, Ravi, Sillence, David, Simon, Marleen, Sutton, V, Warman, Matthew, Superti-Furga, Andrea, Krakow, Deborah
المصدر: The American Journal of Medical Genetics - Part A. 191(5)
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/1tr437zv
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2دورية أكاديمية
المؤلفون: Arlabosse, Tiphaine, Materna, MarieAff2, Aff3, Riccio, Orbicia, Schnider, Caroline, Angelini, Federica, Perreau, Matthieu, Rochat, Isabelle, Superti-Furga, Andrea, Campos-Xavier, Belinda, Héritier, Sébastien, Pereira, AnaïsAff2, Aff3, Deswarte, CarolineAff2, Aff3, Lévy, RomainAff2, Aff3, Distefano, MarcoAff2, Aff3, Bustamante, JacintaAff2, Aff3, Aff8, Aff9, Roelens, MarieAff3, Aff9, Borie, Raphaël, Le Brun, Mathilde, Crestani, Bruno, Casanova, Jean-LaurentAff2, Aff3, Aff8, Aff12, Aff13, Puel, AnneAff2, Aff3, Aff8, Hofer, Michaël, Fieschi, Claire, Theodoropoulou, Katerina, Béziat, VivienAff2, Aff3, Aff8, IDs10875023015174_cor25, Candotti, FabioAff4, IDs10875023015174_cor26
المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 43(7):1566-1580
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3دورية أكاديمية
المؤلفون: Tankeu, Aurel T., Pavlidou, Despina Christina, Superti-Furga, Andrea, Gariani, Karim, Tran, ChristelAff1, IDs13023023026362_cor5
المصدر: Orphanet Journal of Rare Diseases. 18(1)
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4دورية أكاديمية
المؤلفون: Velmans, Clara, O'Donnell-Luria, Anne H, Argilli, Emanuela, Mau-them, Frederic Tran, Vitobello, Antonio, Chan, Marcus CY, Fung, Jasmine Lee-Fong, Rech, Megan, Abicht, Angela, Mucca, Marion Aubert, Carmichael, Jason, Chassaing, Nicolas, Clark, Robin, Coubes, Christine, Denommé-Pichon, Anne-Sophie, de Dios, John Karl, England, Eleina, Funalot, Benoit, Gerard, Marion, Joseph, Maries, Kennedy, Colleen, Kumps, Camille, Willems, Marjolaine, van de Laar, Ingrid MBH, Aarts-Tesselaar, Coranne, van Slegtenhorst, Marjon, Lehalle, Daphné, Leppig, Kathleen, Lessmeier, Lennart, Pais, Lynn S, Paterson, Heather, Ramanathan, Subhadra, Rodan, Lance H, Superti-Furga, Andrea, Chung, Brian HY, Sherr, Elliott, Netzer, Christian, Schaaf, Christian P, Erger, Florian
المصدر: Journal of Medical Genetics. 59(7)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Pediatric, Human Genome, Autism, Mental Health, Neurosciences, Clinical Research, Congenital Structural Anomalies, 2.1 Biological and endogenous factors, Aetiology, Mental health, Autism Spectrum Disorder, Child, Humans, Intellectual Disability, Megalencephaly, Neurodevelopmental Disorders, Seizures, Syndrome, Exome Sequencing, human genetics, genetic counselling, genetics, behavioural, mutation, Medical and Health Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/8vj1p265
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5دورية أكاديمية
المؤلفون: Luta, XhyljetaAff1, IDs13023024032319_cor1, Zanchi, Fabio, Fresa, Marco, Porccedu, Enrica, Keller, Sanjiv, Bouchardy, Judith, Déglise, Sébastien, Qanadli, Salah DineAff2, Aff8, Kirsch, Matthias, Wuerzner, Grégoire, Superti-Furga, Andrea, Buso, Giacomo, Mazzolai, Lucia
المصدر: Orphanet Journal of Rare Diseases. 19(1)
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6دورية أكاديمية
المؤلفون: Paganini, Chiara, Carroll, Ricki S., Gramegna Tota, Chiara, Schelhaas, Andrea J., Leone, Alessandra, Duker, Angela L., O'Connell, David A., Coghlan, Ryan F., Johnstone, Brian, Ferreira, Carlos R., Peressini, Sabrina, Albertini, Riccardo, Forlino, Antonella, Bonafé, Luisa, Campos-Xavier, Ana Belinda, Superti-Furga, Andrea, Zankl, Andreas, Rossi, Antonio, Bober, Michael B.
المصدر: In Bone October 2023 175
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7دورية أكاديمية
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8دورية أكاديمية
المؤلفون: Trespidi Laura, Andreucci Elena, Giglio Sabrina, Natacci Federica, Colombo Lorenzo, Gentilin Barbara, Bianchi Vera, Bedeschi Maria, Acaia Barbara, Furga Andrea, Lalatta Faustina
المصدر: Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 7 (2011)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Arlabosse, Tiphaine, Materna, MarieAff2, Aff3, Riccio, Orbicia, Schnider, Caroline, Angelini, Federica, Perreau, Matthieu, Rochat, Isabelle, Superti-Furga, Andrea, Campos-Xavier, Belinda, Héritier, Sébastien, Pereira, AnaïsAff2, Aff3, Deswarte, CarolineAff2, Aff3, Lévy, RomainAff2, Aff3, Distefano, MarcoAff2, Aff3, Bustamante, JacintaAff2, Aff3, Aff8, Aff9, Roelens, MarieAff3, Aff9, Borie, Raphaël, Le Brun, Mathilde, Crestani, Bruno, Casanova, Jean‑LaurentAff2, Aff3, Aff8, Aff12, Aff13, Puel, AnneAff2, Aff3, Aff8, Hofer, Michaël, Fieschi, Claire, Theodoropoulou, Katerina, Béziat, VivienAff2, Aff3, Aff8, IDs1087502301539y_cor25, Candotti, FabioAff4, IDs1087502301539y_cor26
المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 43(7):1674-1674
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10دورية أكاديمية
المؤلفون: Koval, Alexey, Larasati, Yonika A., Savitsky, Mikhail, Solis, Gonzalo P., Good, Jean-Marc, Quinodoz, Mathieu, Rivolta, Carlo, Superti-Furga, Andrea, Katanaev, Vladimir L.
المصدر: In Med 12 May 2023 4(5):311-325