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1دورية أكاديمية
المؤلفون: Milufarzana, Golam Saklain Jim, Selina Banu, Md Rakib Hasan, Anisur Rahman
المصدر: Fundamental and Applied Agriculture, Vol 6, Iss 1, Pp 35-42 (2021)
مصطلحات موضوعية: sprayer, grasscutter, solar powered, machinery development, Agriculture
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Selina Banu, Atikur Rahman, A.K.M. Adham
المصدر: Fundamental and Applied Agriculture, Vol 2, Iss 3, Pp 317-325 (2017)
مصطلحات موضوعية: Climate change, MAGICC/SCENGEN model, DSSAT model, Leaf area index, Aboveground dry matter, Harvest index, Food security, Agriculture
وصف الملف: electronic resource
العلاقة: http://www.ejmanager.com/fulltextpdf.php?mno=278830Test; https://doaj.org/toc/2518-2021Test
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3دورية أكاديمية
المؤلفون: Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Tracy Lau, Edward B. Cook, Javeria Raza Alvi, Hasnaa M. Elbendary, Jerry Jewell, Antonella Riva, Alessandro Orsini, Aglaia Vignoli, Zara Federico, Jessica Rosenblum, An‐Sofie Schoonjans, Matthias De Wachter, Iñaki Álvarez, Ana Felipe‐Rucián, Nourelhoda A. Haridy, Shahzad Haider, Mashaya Zaman, Selina Banu, Najwa Anwaar, Fatima Rahman, Shazia Maqbool, Rashmi Yadav, Vincenzo Salpietro, Reza Maroofian, Rajan Patel, Rupa Radhakrishnan, Sanjay P. Prabhu, Klaske D. Lichtenbelt, Helen Stewart, Yoshiko Murakami, Ulrike Löbel, Felice D'Arco, Emma Wakeling, Wendy D. Jones, Eleanor Hay, Sanjay Bhate, Thomas S. Jacques, David M. Mirsky, Matthew T. Whitehead, Maha S. Zaki, Tipu Sultan, Pasquale Striano, Anna C. Jansen, Maarten H. Lequin, Linda S. de Vries
مصطلحات موضوعية: Lysosomal Storage Disorders in Human Health and Disease, Physiology, FOS Biological sciences, Medicine, Health Sciences, Epidemiology and Treatment of Chagas Disease, Epidemiology, Chitin Metabolism in Insects and Mammals, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Glycosylphosphatidylinositol, Atrophy, Hypotonia, Epilepsy, Natural history, Phenotype, Genetic heterogeneity, Disease, Cohort, Global developmental delay, Intellectual disability, Genetics, Pediatrics, Biology, Gene, Internal medicine, Psychiatry
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4دورية أكاديمية
المؤلفون: Rauan Kaiyrzhanov, Abolfazl Rad, Sheng‐Jia Lin, Aida M. Bertoli‐Avella, Wouter W. Kallemeijn, Annie Godwin, Maha S. Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stéphanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A. Normand, Sabine Rudnik‐Schöneborn, Ulrich A. Schatz, Marc P. Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Péter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A. Abdul–Majeed
مصطلحات موضوعية: Peroxisome Proliferator-Activated Receptors, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Ubiquitin-Proteasome Proteolytic Pathway, Endoplasmic Reticulum Stress and Unfolded Protein Response, Cell Biology, Protein Folding, Dystonia, Microcephaly, Movement disorders, Ataxia, Biology, Hypotonia, Neuroscience, Genetics, FOS Biological sciences, Medicine, Internal medicine, Disease
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5دورية أكاديمية
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
العلاقة: 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/11570/3284674Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85180561163
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6دورية أكاديمية
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
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7دورية أكاديمية
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 -
8دورية أكاديمية
المؤلفون: Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona‐Londoño, Karla A. Peña‐Guerra, Yolande van Bever, Barbara W. van Paassen, Anneke J.A. Kievit, Marjon van Slegtenhorst, Nicholas M. Allen, Caroline M. Kehoe, Hannah K. Robinson, Lewis Pang, Selina Banu, Mashaya Zaman, Stéphanie Efthymiou, Henry Houlden, Irma Järvelä, Leena Lauronen, Tuomo Määttä, Isabelle Schrauwen, Suzanne M. Leal, Claudia Ruivenkamp, Daniela Q.C.M. Barge‐Schaapveld, Cacha Peeters‐Scholte, Hamid Galehdari, Neda Mazaheri, Sanjay M. Sisodiya, Victoria Harrison, Angela Sun, Jenny Thies, Luis Alberto Pedroza, Yana Lara-Taranchenko, Iván K. Chinn, James R. Lupski, Alexandra Garza-Flores, Jeffery McGlothlin, Lin Yang, Shaoping Huang, Xiaodong Wang, Tamison Jewett, Gretchen Rosso, Xiangmin Lin, Shehla Mohammed, J. Lawrence Merritt, Ghayda Mirzaa, Andrew E. Timms, Joshua Scheck
مصطلحات موضوعية: Molecular Basis of Rett Syndrome and Related Disorders, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Functions and Regulation of RNA Editing by ADARs, Molecular Biology, Ubiquitin-Proteasome Proteolytic Pathway, Transcriptome Diversity, Penetrance, Intellectual disability, Phenotype, Epilepsy, Cohort, Autism spectrum disorder, Autism, Copy-number variation, Neurodevelopmental disorder, Biology, Medicine, Bioinformatics, FOS Computer and information sciences, Neuroscience, Genome, Psychiatry, Internal medicine, Gene
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9دورية أكاديمية
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
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المؤلفون: Chiara Klöckner, J Pedro Fernández-Murray, Mahtab Tavasoli, Heinrich Sticht, Gisela Stoltenburg-Didinger, Leila Motlagh Scholle, Somayeh Bakhtiari, Michael C Kruer, Hossein Darvish, Saghar Ghasemi Firouzabadi, Alex Pagnozzi, Anju Shukla, Katta Mohan Girisha, Dhanya Lakshmi Narayanan, Parneet Kaur, Reza Maroofian, Maha S Zaki, Mahmoud M Noureldeen, Andreas Merkenschlager, Janina Gburek-Augustat, Elisa Cali, Selina Banu, Kamrun Nahar, Stephanie Efthymiou, Henry Houlden, Rami Abou Jamra, Jason Williams, Christopher R McMaster, Konrad Platzer
المصدر: Brain
مصطلحات موضوعية: Epilepsy, Neurodevelopmental Disorders, Report, Microcephaly, Choline Kinase, Humans, Neurology (clinical), Nervous System Malformations, Alleles
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6bafae1ef1abf0055fba256b4eba891Test
https://doi.org/10.1093/brain/awac074Test