المؤلفون: Calì, Elisa, Lin, Sheng-Jia, Rocca, Clarissa, Sahin, Yavuz, Al Shamsi, Aisha, El Chehadeh, Salima, Chaabouni, Myriam, Mankad, Kshitij, Galanaki, Evangelia, Efthymiou, Stephanie, Sudhakar, Sniya, Athanasiou-Fragkouli, Alkyoni, Çelik, Tamer, Narlı, Nejat, Bianca, Sebastiano, Murphy, David, De Carvalho Moreira, Francisco Martins, Andrea Accogli, null, Petree, Cassidy, Huang, Kevin, Monastiri, Kamel, Edizadeh, Masoud, Nardello, Rosaria, Ognibene, Marzia, De Marco, Patrizia, Ruggieri, Martino, Zara, Federico, Striano, Pasquale, Şahin, Yavuz, Al-Gazali, Lihadh, Abi Warde, Marie Therese, Gerard, Benedicte, Zifarelli, Giovanni, Beetz, Christian, Fortuna, Sara, Soler, Miguel, Valente, Enza Maria, Varshney, Gaurav, Maroofian, Reza, Salpietro, Vincenzo, Houlden, Henry, Michael G Hannah, Enrico Bugiardini, Yamna Kriouile, Mohamed El Khorassani, Mhammed Aguennouz, Stanislav Groppa, Blagovesta Marinova Karashova, Gabriella Di Rosa, Jatinder S Goraya, Tipu Sultan, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Pierangelo Veggiotti, Alberto Verrotti, Salvatore Savasta, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Savvas Papacostas, Chiara Compagnoni, Alessandra Piccirilli, Michail Vikelis, Viorica Chelban, Rauan Kaiyrzhanov, Andrea Cortese, Roisin Sullivan, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, Shen-Yang Lim, Farooq Shaikh, Annarita Scardamaglia, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Massimo Zollo, Gali Heimer, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Fowzan S Alkuraya, Mie Rizig, Chingiz Shashkin, Nazira Zharkynbekova, Kairgali Koneyev, Ganieva Manizha, Maksud Isrofilov, Ulviyya Guliyeva, Kamran Salayev, Samson Khachatryan, Georgia Xiromerisiou, Cleanthe Spanaki, Arianna Tucci, Chiara Fiorillo, Federico Rissotto, Francina Munell, Antonella Gagliano, Farida Jan, Roberto Chimenz, Eloisa Gitto, Caterina Cuppari, Carmelo Romeo, Francesca Magrinelli, Neerja Gupta, Madhulika Kabra, Hanene Benrhouma, Meriem Tazir, Luca Zagaroli, Claudia Caloisi, Cecilia Fabiano, Gabriella Bottone, Giovanni Farello, Sandra Di Fabio, Makram Obeid, Sophia Bakhtadze, Nebal W Saadi, Maha S Zaki, Chahnez C Triki, Majdi Kara, Vincenzo Belcastro, Nicola Specchio, Ehsan G Karimiani, Ahmed M Salih, Luca A Ramenghi, Emanuele David, Riccardo Curró, Maria Laura Iezzi, Giulia Iapadre, Giuliana Nanni, Giovanna Scorrano, Maria F Fiorile, Francesco Brancati, Giovanna Di Falco, Luana Mandarà, Giuseppe Barrano, Maurizio Elia, Gaetano Terrone, Francesca F Operto, Mariella Valenzise, Ylenia Della Rocca, Francesca Zazzeroni, Edoardo Alesse, Filippo Manti, Serena Galosi, Francesca Nardecchia, Vincenzo Leuzzi, Erica Pironti, Greta Amore, Giorgia Ceravolo, Faisal Zafar, Ehsan Ullah, Erum Afzal, Iram Javed, Fatima Rahman, Muhammad Mehboob Ahmed, Pasquale Parisi, Paola Borgia, Giuseppe D Mangano, Francesco Chiarelli

المساهمون: Elisa, Calì, Sheng-Jia, Lin, Clarissa, Rocca, Yavuz, Sahin, Aisha, Al Shamsi, Salima, El Chehadeh, Myriam, Chaabouni, Kshitij, Mankad, Evangelia, Galanaki, Stephanie, Efthymiou, Sniya, Sudhakar, Alkyoni, Athanasiou-Fragkouli, Tamer, Çelik, Nejat, Narlı, Sebastiano, Bianca, David, Murphy, Francisco Martins, De Carvalho Moreira, Null, Andrea Accogli, Cassidy, Petree, Kevin, Huang, Kamel, Monastiri, Masoud, Edizadeh, Rosaria, Nardello, Marzia, Ognibene, Patrizia, De Marco, Martino, Ruggieri, Federico, Zara, Pasquale, Striano, Yavuz, Şahin, Lihadh, Al-Gazali, Marie Therese, Abi Warde, Benedicte, Gerard, Giovanni, Zifarelli, Christian, Beetz, Sara, Fortuna, Miguel, Soler, Enza Maria, Valente, Gaurav, Varshney, Reza, Maroofian, Vincenzo, Salpietro, Henry, Houlden, G Hannah, Michael, Bugiardini, Enrico, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Groppa, Stanislav, Marinova Karashova, Blagovesta, Di Rosa, Gabriella, S Goraya, Jatinder, Sultan, Tipu, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Veggiotti, Pierangelo, Verrotti, Alberto, Savasta, Salvatore, Macaya Ruiz, Alfon, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savva, Compagnoni, Chiara, Piccirilli, Alessandra, Vikelis, Michail, Chelban, Viorica, Kaiyrzhanov, Rauan, Cortese, Andrea, Sullivan, Roisin, Zamba Papanicolaou, Eleni, Dardiotis, Efthymio, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Noureen Rana, Nuzhat, Atawneh, Osama, Lim, Shen-Yang, Shaikh, Farooq, Scardamaglia, Annarita, Koutsis, George, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Zollo, Massimo, Heimer, Gali, Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, S Alkuraya, Fowzan, Rizig, Mie, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Xiromerisiou, Georgia

مصطلحات موضوعية: Human mediator complex, MED11, MEDopathies

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36001086; info:eu-repo/semantics/altIdentifier/wos/WOS:000879580900020; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11573/1656558Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136518302

الإتاحة: https://doi.org/10.1016/j.gim.2022.07.013Test
http://hdl.handle.net/11573/1656558Test

المؤلفون: Neuray C, Maroofian R, Scala M, Sultan T, Pai GS, Mojarrad M, Khashab HE, deHoll L, Yue W, Alsaif HS, Zanetti MN, Bello O, Person R, Eslahi A, Khazaei Z, Feizabadi MH, Efthymiou S, SYNaPS Study Group, El-Bassyouni HT, Soliman DR, Tekes S, Ozer L, Baltaci V, Khan S, Beetz C, Amr KS, Salpietro V, Jamshidi Y, Alkuraya FS, Houlden H. Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Di Rosa G, Jatinder S Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D Ferrari, 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, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves A Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Hamed Sherifa

المساهمون: Neuray, C, Maroofian, R, Scala, M, Sultan, T, Pai, G, Mojarrad, M, Khashab, He, Deholl, L, Yue, W, Alsaif, H, Zanetti, Mn, Bello, O, Person, R, Eslahi, A, Khazaei, Z, Feizabadi, Mh, Efthymiou, S, SYNaPS Study, Group, El-Bassyouni, Ht, Soliman, Dr, Tekes, S, Ozer, L, Baltaci, V, Khan, S, Beetz, C, Amr, K, Salpietro, V, Jamshidi, Y, Alkuraya, F, Houlden H., Stanislav Groppa, Blagovesta Marinova, Karashova, Wolfgang, Nachbauer, Sylvia, Boesch, Larissa, Arning, Dagmar, Timmann, Bru, Cormand, Belen, Pérez-Dueña, Di Rosa, G, Jatinder, S Goraya, Tipu, Sultan, Jun, Mine, Daniela, Avdjieva, Hadil, Kathom, Radka, Tincheva, Selina, Banu, Mercedes, Pineda-Marfa, Pierangelo, Veggiotti, Michel, D Ferrari, Alberto, Verrotti, Giangluigi, Marseglia, Salvatore, Savasta, Mayte, García-Silva, Alfons Macaya, Ruiz, Barbara, Garavaglia, Eugenia, Borgione, Simona, Portaro, Benigno Monteagudo, Sanchez, Richard, Bole, Savvas, Papacosta, Michail, Vikeli, Eleni Zamba, Papanicolaou, Efthymios, Dardioti, Shazia, Maqbool, Shahnaz, Ibrahim, Salman, Kirmani, Nuzhat Noureen, Rana, Osama, Atawneh, George, Koutsi, Marianthi, Breza, Salvatore, Mangano, Carmela, Scuderi, Giovanna, Morello, Tanya, Stojkovic, Massimi, Zollo, Gali, Heimer, Yves, A Dauvillier, Pasquale, Striano, Issam, Al-Khawaja, Fuad, Al-Mutairi, Hamed, Sherifa

مصطلحات موضوعية: GAD1, cleft palate, epilepsy, muscle weakness, neurodevelopmental delay

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32705143; info:eu-repo/semantics/altIdentifier/wos/WOS:000825023900016; volume:143; issue:8; firstpage:2388; lastpage:2397; numberofpages:10; journal:BRAIN; https://hdl.handle.net/11570/3185113Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097368013; https://academic.oup.com/brain/article/143/8/2388/5875729?login=trueTest

الإتاحة: https://doi.org/10.1093/brain/awaa178Test
https://hdl.handle.net/11570/3185113Test
https://academic.oup.com/brain/article/143/8/2388/5875729?login=trueTest

المؤلفون: 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.

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

مصطلحات موضوعية: cardiac conduction anomalie, Gnb5 -null mouse model, GNB5 variant, IDDCA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000729894000004; volume:58; issue:12; firstpage:815; lastpage:831; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11588/829429Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097244700

الإتاحة: https://doi.org/10.1136/jmedgenet-2020-107015Test
http://hdl.handle.net/11588/829429Test

المؤلفون: Heidy, Baide-Mairena, Laura, Marti-Sánchez, Anna, Marcé-Grau, Ana, Cazurro-Gutiérrez, Angel, Sanchez-Montanez, Ignacio, Delgado, Antonio, Moreno-Galdó, Alfons, Macaya-Ruiz, Elena, García-Arumí, Belén, Pérez-Dueñas

المصدر: Developmental Medicine & Child Neurology. 64:743-752

مصطلحات موضوعية: Male, Mitochondrial Diseases, Infant, Newborn, Infant, Nervous System Malformations, DNA, Mitochondrial, Magnetic Resonance Imaging, Autoimmune Diseases of the Nervous System, Basal Ganglia Diseases, Developmental Neuroscience, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Humans, Female, Prospective Studies, Neurology (clinical), Child

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::520a01a364469e5ef75c1e23acd96a82Test
https://doi.org/10.1111/dmcn.15125Test

المؤلفون: Amaia Lasa-Aranzasti, Ana Cazurro-Gutiérrez, Agustín Bescós, Victoria González, Lourdes Ispierto, Manel Tardáguila, Irene Valenzuela, Alberto Plaja, Antonio Moreno-Galdó, Alfons Macaya-Ruiz, Belen Pérez-Dueñas

المصدر: Parkinsonismrelated disorders. 103

مصطلحات موضوعية: Dystonia, Treatment Outcome, Neurology, Dystonic Disorders, Deep Brain Stimulation, Humans, Neurology (clinical), Haploinsufficiency, Geriatrics and Gerontology, GTP-Binding Protein alpha Subunits, Gi-Go, Globus Pallidus

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5552d15d9a9e9080d14748891ee52e6aTest
https://pubmed.ncbi.nlm.nih.gov/36096018Test

المؤلفون: Marta Correa‐Vela, Joao Carvalho, Julia Ferrero‐Turrion, Ana Cazurro‐Gutiérrez, Maria Vanegas, Victoria Gonzalez, Ramiro Alvárez, Anna Marcé‐Grau, Antonio Moreno, Alfons Macaya‐Ruiz, Belén Pérez‐Dueñas

المصدر: Developmental medicine and child neurologyREFERENCES. 65(2)

مصطلحات موضوعية: Developmental Neuroscience, Pediatrics, Perinatology and Child Health, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44f39869799f229e121b04f97813f899Test
https://pubmed.ncbi.nlm.nih.gov/35723607Test

المؤلفون: 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.

المساهمون: University of Lausanne (UNIL), University College of London [London] (UCL), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Children's Hospital [Lahore], Institute of Child Health [Lahore], Children's Hospital [Multan], Institute of Child Health [Multan], National Research Centre - NRC (EGYPT), Howard Hughes Medical Institute (HHMI), Shahid Chamran University of Ahvaz (SCU), Ahvaz Jundishapur University of Medical Sciences (AJUMS), National Institutes of Health [Bethesda] (NIH), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Lausanne = University of Lausanne (UNIL), Herrada, Anthony, P., De Nitti, S., Efthymiou, A., Sarre, N., Guex, J., Chrast, A., Putoux, T., Sultan, J., Raza Alvi, Z., Ur Rahman, F., Zafar, N., Rana, F., Rahman, N., Anwar, S., Maqbool, M. S., Zaki, J. G., Gleeson, D., Murphy, H., Galehdari, G., Shariati, N., Mazaheri, A., Sedaghat, G., Lesca, N., Chatron, V., Salpietro, M., Christoforou, H., Houlden, W. F., Simond, T., Pedrazzini, R., Maroofian, A., Reymond, STUDY GROUP: SYNAPS Study Group: Stanislav Groppa, Synap, Marinova Karashova, Blagovesta, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, S Goraya, Jatinder, Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Pineda-Marfa, Mercede, Veggiotti, Pierangelo, Ferrari, Michel D., van den Maagdenberg, Arn M. J. M., Verrotti, Alberto, Marseglia, Giangluigi, Savasta, Salvatore, García-Silva, Mayte, Macaya Ruiz, Alfon, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Monteagudo Sanchez, Benigno, Boles, Richard, Papacostas, Savva, Vikelis, Michail, Zamba Papanicolaou, Eleni, Dardiotis, Efthymio, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Noureen Rana, Nuzhat, Atawneh, Osama, Koutsis, George, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Stojkovic, Tanya, Zollo, Massimo, Heimer, Gali, Dauvilliers, Yves A., Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, Sherifa., Hamed

المصدر: 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⟩

مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, Batecs cardíacs, 0302 clinical medicine, Neurodevelopmental disorder, Heart Rate, Medicine, Child, Genetics (clinical), Mice, Knockout, Gnb5-null mouse models, GTP-Binding Protein beta Subunits, Cardiac muscle, Heart, Syndrome, IDDCA, Functional Genomics, Pedigree, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, cardiac conduction anomalies, Gnb5 -null mouse models, GNB5 variants, medicine.anatomical_structure, Child, Preschool, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Female, medicine.symptom, Signal Transduction, Bradycardia, Cardiac function curve, Gnb5 -null mouse model, medicine.medical_specialty, Adolescent, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Contractility, Young Adult, Brain damage, 03 medical and health sciences, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, GNB5variants, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Internal medicine, Exome Sequencing, Heart rate, Genetics, Animals, Humans, business.industry, Gene Expression Profiling, Heart beat, Proteins, Cardiac arrhythmia, Arrhythmias, Cardiac, GNB5 variant, medicine.disease, Mice, Inbred C57BL, Autonomic nervous system, 030104 developmental biology, Endocrinology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, Lesions cerebrals, cardiac conduction anomalie, business, Proteïnes, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c9ebc9c3b81e32161c102409b0091dfTest
https://doi.org/10.1136/jmedgenet-2020-107015Test

المؤلفون: Elisa Calì, Sheng-Jia Lin, Clarissa Rocca, Yavuz Sahin, Aisha Al Shamsi, Salima El Chehadeh, Myriam Chaabouni, Kshitij Mankad, Evangelia Galanaki, Stephanie Efthymiou, Sniya Sudhakar, Alkyoni Athanasiou-Fragkouli, Tamer Çelik, Nejat Narlı, Sebastiano Bianca, David Murphy, Francisco Martins De Carvalho Moreira, null Andrea Accogli, Cassidy Petree, Kevin Huang, Kamel Monastiri, Masoud Edizadeh, Rosaria Nardello, Marzia Ognibene, Patrizia De Marco, Martino Ruggieri, Federico Zara, Pasquale Striano, Yavuz Şahin, Lihadh Al-Gazali, Marie Therese Abi Warde, Benedicte Gerard, Giovanni Zifarelli, Christian Beetz, Sara Fortuna, Miguel Soler, Enza Maria Valente, Gaurav Varshney, Reza Maroofian, Vincenzo Salpietro, Henry Houlden, Michael G. Hannah, Enrico Bugiardini, Yamna Kriouile, Mohamed El Khorassani, Mhammed Aguennouz, Stanislav Groppa, Blagovesta Marinova Karashova, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Pierangelo Veggiotti, Alberto Verrotti, Salvatore Savasta, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Savvas Papacostas, Chiara Compagnoni, Alessandra Piccirilli, Michail Vikelis, Viorica Chelban, Rauan Kaiyrzhanov, Andrea Cortese, Roisin Sullivan, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, Shen-Yang Lim, Farooq Shaikh, Annarita Scardamaglia, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Massimo Zollo, Gali Heimer, Issam Al-Khawaja, Fuad Al-Mutairi, Fowzan S. Alkuraya, Mie Rizig, Chingiz Shashkin, Nazira Zharkynbekova, Kairgali Koneyev, Ganieva Manizha, Maksud Isrofilov, Ulviyya Guliyeva, Kamran Salayev, Samson Khachatryan, Georgia Xiromerisiou, Cleanthe Spanaki, Arianna Tucci, Chiara Fiorillo, Federico Rissotto, Francina Munell, Antonella Gagliano, Farida Jan, Roberto Chimenz, Eloisa Gitto, Caterina Cuppari, Carmelo Romeo, Francesca Magrinelli, Neerja Gupta, Madhulika Kabra, Hanene Benrhouma, Meriem Tazir, Luca Zagaroli, Claudia Caloisi, Cecilia Fabiano, Gabriella Bottone, Giovanni Farello, Sandra Di Fabio, Makram Obeid, Sophia Bakhtadze, Nebal W. Saadi, Maha S. Zaki, Chahnez C. Triki, Majdi Kara, Vincenzo Belcastro, Nicola Specchio, Ehsan G. Karimiani, Ahmed M. Salih, Luca A. Ramenghi, Emanuele David, Riccardo Curró, Maria Laura Iezzi, Giulia Iapadre, Giuliana Nanni, Giovanna Scorrano, Maria F. Fiorile, Francesco Brancati, Giovanna Di Falco, Luana Mandarà, Giuseppe Barrano, Maurizio Elia, Gaetano Terrone, Francesca F. Operto, Mariella Valenzise, Ylenia Della Rocca, Francesca Zazzeroni, Edoardo Alesse, Filippo Manti, Serena Galosi, Francesca Nardecchia, Vincenzo Leuzzi, Erica Pironti, Greta Amore, Giorgia Ceravolo, Faisal Zafar, Ehsan Ullah, Erum Afzal, Iram Javed, Fatima Rahman, Muhammad Mehboob Ahmed, Pasquale Parisi, Paola Borgia, Giuseppe D. Mangano, Francesco Chiarelli, Queen Square Genomics

المساهمون: Tıp Fakültesi

مصطلحات موضوعية: Mediator Complex, Homozygote, Human mediator complex, MED11, MEDopathies, Neurodegenerative Diseases, Human Mediator Complex, Animals, Humans, RNA, Zebrafish, Microcephaly, Medopathies, Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3ad32ae43b493e4ed17edb86a09aa52Test
https://hdl.handle.net/20.500.12445/2759Test

المؤلفون: Fernando Paredes-Carmona, Miquel Raspall-Chaure, Alfons Macaya-Ruiz, Júlia Sala Coromina, Núria Visa-Reñé

المصدر: Epilepsybehavior : EB. 107

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Levetiracetam, Adolescent, Population, Brivaracetam, Irritability, 03 medical and health sciences, Behavioral Neuroscience, Epilepsy, 0302 clinical medicine, medicine, Humans, 030212 general & internal medicine, Generalized epilepsy, Wakefulness, Adverse effect, education, Child, Retrospective Studies, education.field_of_study, business.industry, medicine.disease, Irritable Mood, Pyrrolidinones, Treatment Outcome, Neurology, Tolerability, Anticonvulsants, Epilepsy, Generalized, Female, Neurology (clinical), Epilepsies, Partial, medicine.symptom, business, 030217 neurology & neurosurgery, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e73c749729a27abac0a70d640888333fTest
https://pubmed.ncbi.nlm.nih.gov/32302941Test

المؤلفون: Alfons Macaya-Ruiz, Ludwig Gortner, Martin Poryo, Daniel Ebrahimi-Fakhari, Marina Flotats-Bastardas, Michael Zemlin, Sascha Meyer

المصدر: Neuropediatrics. 49(3)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, Disease, Diagnosis, Differential, 03 medical and health sciences, Tuberous sclerosis, Epilepsy, 0302 clinical medicine, Interquartile range, Tuberous Sclerosis, 030225 pediatrics, Medicine, Humans, University medical, Child, Retrospective Studies, business.industry, Infant, Newborn, Brain, Infant, General Medicine, University hospital, medicine.disease, Multicenter study, Child, Preschool, Pediatrics, Perinatology and Child Health, Organ involvement, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f103be8cd424eabe03d714d58fe4c7f2Test
https://pubmed.ncbi.nlm.nih.gov/29558773Test