Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Johan Aronsson"'
Publikováno v:
Molecular Syndromology. 10:281-285
The DLG3 gene is located at Xq13.1 and encodes SAP102, a member of the MAGUK protein family, extensively expressed in the brain and involved in synaptic function. Mutations in DLG3 are associated with a rare nonsyndromic form of X-linked intellectual
Publikováno v:
SAC
Hung, C.-C. (ed.), SAC '21: Proceedings of the 36th Annual ACM Symposium on Applied Computing, Virtual Event Republic of Korea 22 March, 2021-26 March, 2021, pp. 1736-1745
Hung, C.-C. (ed.), SAC '21: Proceedings of the 36th Annual ACM Symposium on Applied Computing, Virtual Event Republic of Korea 22 March, 2021-26 March, 2021, pp. 1736-1745
Conversational Artificial Intelligence (AI) systems have recently sky-rocketed in popularity and are now used in many applications, from car assistants to customer support. The development of conversational AI systems is supported by a large variety
Autor:
Claire Bardel, Thomas Simonet, Vincent des Portes, Patrick Edery, Corrado Romano, Heather C Mefford, Maria J Miranda, Amy L Schneider, Audrey Labalme, Lauren Baggett, Alma Kuechler, Nicolas Chatron, Antonino Alberti, Gemma L. Carvill, Ingrid E. Scheffer, Erik-Jan Kamsteeg, Mirella Vinci, Damien Sanlaville, Amy Lacroix, Dragan Marjanovic, Neena L. Champaigne, Rolph Pfundt, Dagmar Wieczorek, Elena Gardella, Rikke S. Møller, Johan Aronsson, Gaetan Lesca
Publikováno v:
Annals of Neurology, 83, 5, pp. 926-934
Annals of Neurology, 83, 926-934
Chatron, N, Møller, R S, Champaigne, N L, Schneider, A L, Kuechler, A, Labalme, A, Simonet, T, Baggett, L, Bardel, C, Kamsteeg, E J, Pfundt, R, Romano, C, Aronsson, J, Alberti, A, Vinci, M, Miranda, M J, Lacroix, A, Marjanovic, D, des Portes, V, Edery, P, Wieczorek, D, Gardella, E, Scheffer, I E, Mefford, H, Sanlaville, D, Carvill, G L & Lesca, G 2018, ' The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant ', Annals of Neurology, vol. 83, no. 5, pp. 926-934 . https://doi.org/10.1002/ana.25222
Annals of Neurology, 83, 926-934
Chatron, N, Møller, R S, Champaigne, N L, Schneider, A L, Kuechler, A, Labalme, A, Simonet, T, Baggett, L, Bardel, C, Kamsteeg, E J, Pfundt, R, Romano, C, Aronsson, J, Alberti, A, Vinci, M, Miranda, M J, Lacroix, A, Marjanovic, D, des Portes, V, Edery, P, Wieczorek, D, Gardella, E, Scheffer, I E, Mefford, H, Sanlaville, D, Carvill, G L & Lesca, G 2018, ' The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant ', Annals of Neurology, vol. 83, no. 5, pp. 926-934 . https://doi.org/10.1002/ana.25222
Objective: Cut homeodomain transcription factor CUX2 plays an important role in dendrite branching, spine development, and synapse formation in layer II to III neurons of the cerebral cortex. We identify a recurrent de novo CUX2 p.Glu590Lys as a nove
Publikováno v:
Mol Syndromol
The DLG3 gene is located at Xq13.1 and encodes SAP102, a member of the MAGUK protein family, extensively expressed in the brain and involved in synaptic function. Mutations in DLG3 are associated with a rare nonsyndromic form of X-linked intellectual
Autor:
Johanna Norderyd, Johan Aronsson
Publikováno v:
International Journal of Paediatric Dentistry. 22:154-156
Background. Coffin–Lowry syndrome (CLS) is a rare genetic disorder. The syndrome presents with psychomotor retardation, short stature, skeletal deformations, digit abnormalities, and distinctive f ...
Autor:
Johanna, Norderyd, Johan, Aronsson
Publikováno v:
International journal of paediatric dentistry. 22(2)
Coffin-Lowry syndrome (CLS) is a rare genetic disorder. The syndrome presents with psychomotor retardation, short stature, skeletal deformations, digit abnormalities, and distinctive facial features. Oral and dental findings in CLS are common and the