Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome

Autor: De Nittis P., Efthymiou S., Sarre A., Guex N., Chrast J., Putoux A., Sultan T., Raza Alvi J., Ur Rahman Z., Zafar F., Rana N., Rahman F., Anwar N., Maqbool S., Zaki M. S., Gleeson J. G., Murphy D., Galehdari H., Shariati G., Mazaheri N., Sedaghat A., Lesca G., Chatron N., Salpietro V., Christoforou M., Houlden H., Simonds W. F., Pedrazzini T., Maroofian R., Reymond A., SYNAPS STUDY GROUP: SYNAPS Study Group: Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Jatinder S Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves A. Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Hamed Sherifa.

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2020-107015⟩

BackgroundPathogenic variants of GNB5 encoding the β5 subunit of the guanine nucleotide-binding protein cause IDDCA syndrome, an autosomal recessive neurodevelopmental disorder associated with cognitive disability and cardiac arrhythmia, particularl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c9ebc9c3b81e32161c102409b0091df
https://doi.org/10.1136/jmedgenet-2020-107015

A Defect in the Patent Law of 1870

Autor: Simonds, W. E.

Publikováno v: Scientific American, 1871 Feb 01. 24(7), 99-99.

Externí odkaz: https://www.jstor.org/stable/26042535

Are Our Patent Laws Iniquitous?

Autor: Simonds, W. E.

Publikováno v: The North American Review, 1893 Dec 01. 157(445), 679-686.

Externí odkaz: https://www.jstor.org/stable/25103241

The mode of delivery and the risk of vertical transmission of human immunodeficiency virus type 1 - A meta-analysis of 15 prospective cohort studies

Autor: Steering Committee: Andiman, International Perinatal HIV G. r. o. u. p., Boucher, W, Burns, M, Bryson, D, Farley, Y, Fowler, J, Gabiano, H, Galli, C, Hutto, L, Kind, C, Korber, C, Kovacs, B, Krogstad, A, Landesman, P, Lapointe, S, Lemay, N, Lew, M, Mandelbrot, J, Mayaux, L, Mellins, Mj, Minkoff, R, Mofenson, H, Nielsen, L, Newell, K, Pardi, Ml, Peavy, G, Peckham, H, Read, C, Rother, J, Rudin, C, Scott, C, Semprini, G, Shearer, A, Simonds, W, Simpson, R, Stek, B, Tovo, A, Tuomala, Pa, R, Van, Dyke, Weedon, R, Writing Committee: Andiman, Bryson, W, Y, Martino, De, Fowler, M, Harris, M, Hutto, D, Korber, A, Landesman, B, Lindsay, S, Lapointe, M, Mandelbrot, N, Newell, L, Peavy, Ml, Read, H, Rudin, J, Semprini, A, Simonds, R, Toumala, R, Italian Register for HIV Infection in Children, Tovo, M, Galli, Pa, Gabiano, L, Ferraris, C, Rancilio, L, Bucceri, L, Tulisso, S, Scolfaro, C, Riva, C, Vierucci, C, A, Luca, De, Farina, M, Fundarò, S, Genovese, C, Mereu, O, Forni, G, Stegagno, G, Falconieri, M, Zuccotti, P, Riva, G, Cellini, E, Baraldi, M, Consolini, Rita

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3728::9d9b7bda3938de2817387061ca953d08
http://hdl.handle.net/11568/170759

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