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

المؤلفون: Arlabosse, Tiphaine, Materna, Marie^{Aff2, Aff3}, Riccio, Orbicia, Schnider, Caroline, Angelini, Federica, Perreau, Matthieu, Rochat, Isabelle, Superti-Furga, Andrea, Campos-Xavier, Belinda, Héritier, Sébastien, Pereira, Anaïs^{Aff2, Aff3}, Deswarte, Caroline^{Aff2, Aff3}, Lévy, Romain^{Aff2, Aff3}, Distefano, Marco^{Aff2, Aff3}, Bustamante, Jacinta^{Aff2, Aff3, Aff8, Aff9}, Roelens, Marie^{Aff3, Aff9}, Borie, Raphaël, Le Brun, Mathilde, Crestani, Bruno, Casanova, Jean-Laurent^{Aff2, Aff3, Aff8, Aff12, Aff13}, Puel, Anne^{Aff2, Aff3, Aff8}, Hofer, Michaël, Fieschi, Claire, Theodoropoulou, Katerina, Béziat, Vivien^{Aff2, Aff3, Aff8, IDs10875023015174_cor25}, Candotti, Fabio^{Aff4, IDs10875023015174_cor26}

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 43(7):1566-1580

المؤلفون: Tankeu, Aurel T., Pavlidou, Despina Christina, Superti-Furga, Andrea, Gariani, Karim, Tran, Christel^{Aff1, IDs13023023026362_cor5}

المصدر: Orphanet Journal of Rare Diseases. 18(1)

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

المؤلفون: Luta, Xhyljeta^{Aff1, IDs13023024032319_cor1}, Zanchi, Fabio, Fresa, Marco, Porccedu, Enrica, Keller, Sanjiv, Bouchardy, Judith, Déglise, Sébastien, Qanadli, Salah Dine^{Aff2, Aff8}, Kirsch, Matthias, Wuerzner, Grégoire, Superti-Furga, Andrea, Buso, Giacomo, Mazzolai, Lucia

المصدر: Orphanet Journal of Rare Diseases. 19(1)

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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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

Relation: http://www.ojrd.com/content/6/1/7; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/9e6b1aa424fd41e78151ba180e0cecc7

المؤلفون: Arlabosse, Tiphaine, Materna, Marie^{Aff2, Aff3}, Riccio, Orbicia, Schnider, Caroline, Angelini, Federica, Perreau, Matthieu, Rochat, Isabelle, Superti-Furga, Andrea, Campos-Xavier, Belinda, Héritier, Sébastien, Pereira, Anaïs^{Aff2, Aff3}, Deswarte, Caroline^{Aff2, Aff3}, Lévy, Romain^{Aff2, Aff3}, Distefano, Marco^{Aff2, Aff3}, Bustamante, Jacinta^{Aff2, Aff3, Aff8, Aff9}, Roelens, Marie^{Aff3, Aff9}, Borie, Raphaël, Le Brun, Mathilde, Crestani, Bruno, Casanova, Jean‑Laurent^{Aff2, Aff3, Aff8, Aff12, Aff13}, Puel, Anne^{Aff2, Aff3, Aff8}, Hofer, Michaël, Fieschi, Claire, Theodoropoulou, Katerina, Béziat, Vivien^{Aff2, Aff3, Aff8, IDs1087502301539y_cor25}, Candotti, Fabio^{Aff4, IDs1087502301539y_cor26}

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 43(7):1674-1674

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