المؤلفون: Gagandeep Singh, Suman Sharma, Namita Bansal, Meenakshi Sharma, Anurag Chowdhury, Sarit Sharma, Rajinder K. Bansal, Jatinder S. Goraya, Raj K. Setia, Birinder S. Paul, Josemir W. Sander

المصدر: Epilepsia Open, Vol 7, Iss 4, Pp 781-791 (2022)

مصطلحات موضوعية: adherence, low‐ and middle‐income countries, personal impact, secondary treatment gap, seizure control, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2470-9239

URL الوصول: https://doaj.org/article/3379538f37d84b3d937da5a825f800cf

المؤلفون: Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A, SYNAPS Study Group, Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. SYNAPS Study Group: Michael G Hannah, Enrico Bugiardini, Enrico Bertini, Yamna Kriouile, Mohamed El-Khorassani, Mhammed Aguennouz, Stanislav Groppa, Blagovesta M Karashova, Jatinder S Goraya, Tipu Sultan, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Pierangelo Veggiotti, Alberto Verrotti, Marcello Lanari, Salvatore Savasta, Alfons Macaya, Barbara Garavaglia, Eugenia Borgione, Savvas Papacostas, Michail Vikelis, Viorica Chelban, Rauan Kaiyrzhanov, Andrea Cortese, Roisin Sullivan, Eleni Z Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat N Rana, Osama Atawneh, Shen-Yang Lim, Gian V Zuccotti, Gian L Marseglia, Susanna Esposito, Farooq Shaikh, Paola Cogo, Giovanni Corsello, Salvatore Mangano, Rosaria Nardello, Donato Mangano, Annarita Scardamaglia, George Koutsis, Carmela Scuderi, Pietro Ferrara, Giovanna Morello, Massimo Zollo, Roberto Berni-Canani, Luigi M Terracciano, Antonio Sisto, Sandra Di Fabio, Federica Strano, Giovanna Scorrano, Saverio Di Bella, Ludovica Di Francesco, Ganieva Manizha, Maksud Isrofilov, Ulviyya Guliyeva, Kamran Salayev, Samson Khachatryan, Georgia Xiromerisiou, Cleanthe Spanaki, Chiara Fiorillo, Michele Iacomino, Eugenio Gaudio, Francina Munell, Antonella Gagliano, Farida Jan, Roberto Chimenz, Eloisa Gitto, Lorenzo Iughetti, Gabriella Di Rosa, Mohamad Maghnie, Massimo Pettoello-Mantovani, Neerja Gupta, Madhulika Kabra, Hanene Benrhouma, Meriem Tazir, Gabriella Bottone, Giovanni Farello, Maurizio Delvecchio, Giulio Di-Donato, Makram Obeid, Sophia Bakhtadze, Nebal W Saadi, Michele Miraglia-Del-Giudice, Rita Maccarone, Maha S Zaki, Chahnez C Triki, Majdi Kara, Ehsan G Karimiani, Ahmed M Salih, Luca A Ramenghi, Marco Seri, Giovanna Di-Falco, Luana Mandarà, Giuseppe Barrano, Maurizio Elisa, Enrico Cherubini, Francesca F Operto, Mariella Valenzise, Antonino Cattaneo, Francesca Zazzeroni, Edoardo Alesse, Sara Matricardi, Faisal Zafar, Ehsan Ullah, Erum Afzal, Fatima Rahman, Muhammad M Ahmed, Pasquale Parisi, Alberto Spalice, Maria De Filippo, Amelia Licari, Edoardo Trebbi, Ferdinando Romano, Gali Heimer, Issam Al-Khawaja, Fuad Al-Mutairi, Fowzan S Alkuraya, Mie Rizig, Chingiz Shashkin, Nazira Zharkynbekova, Kairgali Koneyev

المساهمون: Salpietro, V, Maroofian, R, Zaki, M, Wangen, J, Ciolfi, A, Barresi, S, Efthymiou, S, Lamaze, A, Aughey, Gn, Al Mutairi, F, Rad, A, Rocca, C, Calì, E, Accogli, A, Zara, F, Striano, P, Mojarrad, M, Tariq, H, Giacopuzzi, E, Taylor, Jc, Oprea, G, Skrahina, V, Rehman, Ku, Abd Elmaksoud, M, Bassiony, M, El Said HG, Abdel-Hamid, M, Al Shalan, M, Seo, G, Kim, S, Lee, H, Khang, R, Issa, My, Elbendary, Hm, Rafat, K, Marinakis, Nm, Traeger-Synodinos, J, Ververi, A, Sourmpi, M, Eslahi, A, Khadivi Zand, F, Beiraghi Toosi, M, Babaei, M, Jackson, A, SYNAPS Study Group, Bertoli-Avella, A, Pagnamenta, At, Niceta, M, Battini, R, Corsello, A, Leoni, C, Chiarelli, F, Dallapiccola, B, Faqeih, Ea, Tallur, Kk, Alfadhel, M, Alobeid, E, Maddirevula, S, Mankad, K, Banka, S, Ghayoor-Karimiani, E, Tartaglia, M, Chung, Wk, Green, R, Alkuraya, F, Jec, Jepson, SYNAPS Study Group: Michael G Hannah, Houlden H., Bugiardini, Enrico, Bertini, Enrico, Kriouile, Yamna, El-Khorassani, Mohamed, Aguennouz, Mhammed, Groppa, Stanislav, Blagovesta, M Karashova, Jatinder, S Goraya, Sultan, Tipu, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Veggiotti, Pierangelo, Verrotti, Alberto, Lanari, Marcello, Savasta, Salvatore, Macaya, Alfon, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savva, Vikelis, Michail, Chelban, Viorica, Kaiyrzhanov, Rauan, Cortese, Andrea, Sullivan, Roisin, Eleni, Z Papanicolaou, Dardiotis, Efthymio, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Nuzhat, N Rana, Atawneh, Osama

مصطلحات موضوعية: GREND syndrome, GTPBP1, GTPBP2, NBIA, animal model, ectodermal disorder, neurodegeneration, neurodevelopmental disorder, ribosome stalling, ribosomopathies

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/38118446; volume:111; firstpage:200; lastpage:210; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11570/3284674; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85180561163

الاتاحة: https://hdl.handle.net/11570/3284674
https://doi.org/10.1016/j.ajhg.2023.11.012

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

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

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

المؤلفون: Gagandeep Singh, Suman Sharma, Rajnder K. Bansal, Raj K. Setia, Sarit Sharma, Namita Bansal, Anuraag Chowdhury, Jatinder S. Goraya, Susmita Chatterjee, Sukhpreet Kaur, Manpreet Kaur, Shivani Kalra, Josemir W. Sander

المصدر: Epilepsia Open, Vol 4, Iss 2, Pp 264-274 (2019)

مصطلحات موضوعية: adherence, cluster‐randomized trial, community, epilepsy, primary care, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2470-9239

URL الوصول: https://doaj.org/article/07c81fec85754ceab46fd7ed704072b6

المؤلفون: Neuray, C., Maroofian, R., Scala, M., Sultan, T., Pai, G. S., Mojarrad, M., Khashab H. E., deHoll, L., Yue, W., Alsaif, H. S., Zanetti, M. N., Bello, O., Person R, Eslahi A, Khazaei Z, Feizabadi MH, Efthymiou S, 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, 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. S., Mojarrad, M., Khashab, H. E., Deholl, L., Yue, W., Alsaif, H. S., Zanetti, M. N., Bello, O., Person, R, Eslahi, A, Khazaei, Z, Feizabadi, Mh, Efthymiou, S, 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., Groppa, Stanislav, Blagovesta Marinova Karashova, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Di Rosa, G, Jatinder, S Goraya, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Pineda-Marfa, Mercede, Veggiotti, Pierangelo, Michel, D Ferrari, Verrotti, Alberto, Marseglia, Giangluigi, Savasta, Salvatore, García-Silva, Mayte, Alfons Macaya Ruiz, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Benigno Monteagudo Sanchez, Boles, Richard, Papacostas, Savva, Vikelis, Michail, Eleni Zamba Papanicolaou, Dardiotis, Efthymio, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Nuzhat Noureen Rana, Atawneh, Osama, Koutsis, George, Breza, Marianthi, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Stojkovic, Tanya, Zollo, Massimi, Heimer, Gali, Yves, A Dauvillier, Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, Sherifa, Hamed

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

وصف الملف: STAMPA

Relation: 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/11570/3185113; https://academic.oup.com/brain/article/143/8/2388/5875729?login=true

الاتاحة: https://hdl.handle.net/11570/3185113
https://doi.org/10.1093/brain/awaa178
https://academic.oup.com/brain/article/143/8/2388/5875729?login=true

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

Relation: 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/11588/829429; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097244700

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

المؤلفون: Shivankshi Berry, Jatinder S. Goraya, Amandeep Kaur, Gagandeep Singh

المصدر: Neuropediatrics. 52:294-301

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Tuberculous meningitis, Brain Ischemia, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Risk Factors, 030225 pediatrics, medicine, Humans, Child, Stroke, Ischemic Stroke, Retrospective Studies, Arterial dissection, business.industry, Infant, General Medicine, medicine.disease, Arterial Ischemic Stroke, Hemiparesis, Pediatrics, Perinatology and Child Health, Cohort, Cerebral Arterial Diseases, Neurology (clinical), medicine.symptom, Presentation (obstetrics), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::464556930295e8e0635bd27cc5e4272a
https://doi.org/10.1055/s-0041-1728773

المؤلفون: Anurag Chaudhary, Namita Bansal, Rajnder K. Bansal, Jatinder S. Goraya, Sachi Singhal, Gagandeep Singh, Raj Setia, Josemir W. Sander, Sarit Sharma, Birinder S Paul, Suman Sharma

المصدر: Epilepsia Open

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, epileptic syndromes, Traumatic brain injury, business.industry, Seizure types, etiology, Head injury, Psychological intervention, medicine.disease, Epilepsy, Neurology, classification, prevention, Cohort, medicine, Etiology, Full‐length Original Research, perinatal accidents, Neurology (clinical), business, Limited resources

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6af1925145e439a71b94f656e829da4
http://europepmc.org/articles/PMC7733663

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3ad32ae43b493e4ed17edb86a09aa52
https://hdl.handle.net/20.500.12445/2759

المؤلفون: Suman Sharma, K. P. Singh, Namita Bansal, Anurag Chaudhary, Rajinder Bansal, Gagandeep Singh, Raj Setia, Jatinder S. Goraya, Sarit Sharma, Shivani Kalra

المصدر: Annals of Indian Academy of Neurology, Vol 23, Iss 5, Pp 674-680 (2020)
Annals of Indian Academy of Neurology

مصطلحات موضوعية: medicine.medical_specialty, media_common.quotation_subject, availability, Antiepileptic drug, Wage, Pilot survey, Pharmacy, lcsh:RC346-429, 03 medical and health sciences, 0302 clinical medicine, Order (exchange), Medicine, 030212 general & internal medicine, antiepileptic drugs, lcsh:Neurology. Diseases of the nervous system, media_common, affordability, Public economics, business.industry, Public health, Scale (social sciences), epilepsy, Original Article, Neurology (clinical), business, Limited resources, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9a7ce25f6a30574cba8ea19d3cd55aa
http://www.annalsofian.org/article.asp?issn=0972-2327;year=2020;volume=23;issue=5;spage=674;epage=680;aulast=

المؤلفون: Kamaldeep Arora, Deepak Bhat, Jatinder S. Goraya, Shruti Kakkar, Gurdeep S. Dhooria, Siddharth Bhargava, Supreet Khurana, Puneet A Pooni

المصدر: Indian Journal of Child Health. 6:379-382

مصطلحات موضوعية: Mechanical ventilation, Pediatric intensive care unit, medicine.medical_specialty, business.industry, medicine.medical_treatment, 030208 emergency & critical care medicine, Peak inspiratory pressure, 03 medical and health sciences, 0302 clinical medicine, Respiratory failure, 030220 oncology & carcinogenesis, Fraction of inspired oxygen, Emergency medicine, Breathing, medicine, Risk of mortality, Observational study, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::defa3b78309fe56ce87af7f079f2ae0e
https://doi.org/10.32677/ijch.2019.v06.i07.012

المؤلفون: Jatinder S. Goraya

المصدر: Journal of Pediatric Neurology. 18:007-012

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, Clinical events, Cortical neurons, 030105 genetics & heredity, medicine.disease, Review article, Clinical Practice, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Psychiatry, business, psychological phenomena and processes, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f92a88cff15d6b8d61da2fadc56c7dc6
https://doi.org/10.1055/s-0039-1688720

المؤلفون: Ruchika Kumar, Suhalika Singla Sahni, Jatinder S. Goraya, Shruti Kakkar

المصدر: Journal of Pediatric Neurology. 18:013-016

مصطلحات موضوعية: 0301 basic medicine, Vitamin, Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Physical examination, Rickets, Neurological examination, 030105 genetics & heredity, medicine.disease, vitamin D deficiency, Hypotonia, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Motor delay, chemistry, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Motor skill

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8f3c0cdd9552730930ecbfef22c48520
https://doi.org/10.1055/s-0038-1677539

المؤلفون: Jatinder S. Goraya, Sukhjot Kaur

المصدر: Pediatric Dermatology. 35:796-799

مصطلحات موضوعية: medicine.medical_specialty, Glossitis, business.industry, Anemia, Dermatology, Macrocytosis, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Skin hyperpigmentation, Pediatrics, Perinatology and Child Health, Medicine, Generalized hyperpigmentation, 030212 general & internal medicine, Vitamin B12, business, Serum vitamin b12, Homogeneous pattern

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0b644951f096d0e61abf22bca8fc8512
https://doi.org/10.1111/pde.13679

المؤلفون: Jatinder S. Goraya, Shivankshi Berry, Kavita Saggar, Archana Ahluwalia

المصدر: Journal of Child Neurology. 33:146-152

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Basal ganglia calcification, Lenticulostriate Vasculopathy, 03 medical and health sciences, 0302 clinical medicine, Basal Ganglia Diseases, 030225 pediatrics, Basal ganglia, medicine, Craniocerebral Trauma, Humans, Family history, Child, Stroke, Retrospective Studies, business.industry, Brain, Calcinosis, Infant, medicine.disease, Minor head trauma, Thrombosis, Hemiparesis, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Radiology, medicine.symptom, business, 030217 neurology & neurosurgery, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da7d533506ecef8559522d3911e2d08e
https://doi.org/10.1177/0883073817750501

المؤلفون: Jatinder S. Goraya, Sukhjot Kaur, Simrat Kaur

المصدر: Journal of Pediatric Neurology. 16:217-221

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Neurology, Ataxia, Neurocutaneous Syndromes, business.industry, medicine.disease, 03 medical and health sciences, Tuberous sclerosis, Epilepsy, 0302 clinical medicine, 030225 pediatrics, Pediatrics, Perinatology and Child Health, Intellectual disability, medicine, Neurology (clinical), medicine.symptom, Family history, Neurofibromatosis, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4199f7475dccdd54de90fc658a355f93
https://doi.org/10.1055/s-0037-1606335

المؤلفون: Archana Ahluwalia, Chandan Kakkar, Jatinder S. Goraya, Kavita Saggar, Ankur Arora, Shruti Kakkar

المصدر: Insights into Imaging

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Pictorial Review, Disease, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, otorhinolaryngologic diseases, medicine, Radiology, Nuclear Medicine and imaging, Medical diagnosis, Medulla, Neuroradiology, medicine.diagnostic_test, business.industry, food and beverages, Magnetic resonance imaging, Interventional radiology, Glioma, Pons, Encephalitis, Brainstem, Demyelination, business, 030217 neurology & neurosurgery, MRI

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67eeb9fd228f9894d404ab45a3166c82
https://doi.org/10.1007/s13244-016-0496-3

المؤلفون: Jatinder S. Goraya, Sukhjot Kaur

المصدر: Indian Journal of Paediatric Dermatology, Vol 22, Iss 2, Pp 118-122 (2021)

مصطلحات موضوعية: child, Pediatrics, medicine.medical_specialty, business.industry, Common disease, Ecchymosis, scurvy, vitamin c, Dermatology, Disease, Scurvy, medicine.disease, Irritability, RJ1-570, Cerebral palsy, Perifollicular hyperkeratosis, Autism spectrum disorder, RL1-803, medicine, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::639b1677fa67f3e16cdfed1dd256417a
https://doi.org/10.4103/ijpd.ijpd_102_20

المؤلفون: K. K. Purushothaman, N. Sujatha, Amina Aounallah, Maha Lahouel, Rafiaa Nouira, Najet Ghariani, Marouène Bel Kahla, Simrat Kaur, Jatinder S. Goraya

المصدر: Indian Pediatrics. 54:697-699

مصطلحات موضوعية: medicine.medical_specialty, Diabetic ketoacidosis, business.industry, Diabetes mellitus, Pediatrics, Perinatology and Child Health, MEDLINE, Medicine, business, Genital herpes, medicine.disease, Dermatology, Herpes Genitalis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e82e78055f3ab53e6eb31685811ceb9d
https://doi.org/10.1007/s13312-017-1139-6

المؤلفون: Richa Buddhiraja, Jatinder S. Goraya, Shivani Kalra, Sarit Sharma, Manpreet Kaur, Sukhpreet Kaur, Namita Bansal, Josemir W. Sander, Gagandeep Singh, Rajnder K. Bansal, Suman Sharma, Raj Setia, Anuraag Chowdhury

المصدر: Epilepsy & Behavior. 104:106899

مصطلحات موضوعية: Adult, Male, Health Knowledge, Attitudes, Practice, medicine.medical_specialty, Auxiliary nurse, Health Personnel, Primary health care, India, 03 medical and health sciences, Behavioral Neuroscience, Epilepsy, 0302 clinical medicine, Surveys and Questionnaires, medicine, Humans, Community health workers, 030212 general & internal medicine, Social determinants of health, Accreditation, Community Health Workers, Government, Primary Health Care, Middle Aged, Quarter (United States coin), medicine.disease, Neurology, Family medicine, Female, Neurology (clinical), Psychology, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae00a925d74c5cc699a0c4f5bf75fc56
https://doi.org/10.1016/j.yebeh.2019.106899