المؤلفون: Sidpra, Jai, Sudhakar, Sniya, Biswas, Asthik, Massey, Flavia, Turchetti, Valentina, Lau, Tracy, Cook, Edward, Alvi, Javeria Raza, Elbendary, Hasnaa M., Jewell, Jerry L., Riva, Antonella, Orsini, Alessandro, Vignoli, Aglaia, Federico, Zara, Rosenblum, Jessica, Schoonjans, An-Sofie, de Wachter, Matthias, Alvarez, Ignacio Delgado, Felipe-Rucián, Ana, Haridy, Nourelhoda A., Haider, Shahzad, Zaman, Mashaya, Banu, Selina, Anwaar, Najwa, Rahman, Fatima, Maqbool, Shazia, Yadav, Rashmi, Salpietro, Vincenzo, Maroofian, Reza, Patel, Rajan, Radhakrishnan, Rupa, Prabhu, Sanjay P., Lichtenbelt, Klaske, Stewart, Helen, Murakami, Yoshiko, Löbel, Ulrike, D'Arco, Felice, Wakeling, Emma, Jones, Wendy, Hay, Eleanor, Bhate, Sanjay, Jacques, Thomas S., Mirsky, David M., Whitehead, Matthew T., Zaki, Maha S., Sultan, Tipu, Striano, Pasquale, Jansen, Anna C., Lequin, Maarten, de Vries, Linda S., Severino, Mariasavina, Edmondson, Andrew C., Menzies, Lara, Campeau, Philippe M., Houlden, Henry, McTague, Amy, Efthymiou, Stephanie, Mankad, Kshitij

المساهمون: Radiology and Imaging Sciences, School of Medicine

المصدر: PMC

مصطلحات موضوعية: GPI, Congenital disorders of glycosylation, Developmental delay, Epilepsy, Neurodevelopmental disorder, Neuroimaging

وصف الملف: application/pdf

Relation: Brain; https://hdl.handle.net/1805/43870

الاتاحة: https://hdl.handle.net/1805/43870

المؤلفون: Kaiyrzhanov, Rauan, Rad, Aboulfazl, Lin, Sheng-Jia, Bertoli-Avella, Aida, Kallemeijn, Wouter W, Godwin, Annie, Zaki, Maha S, Huang, Kevin, Lau, Tracy, Petree, Cassidy, Efthymiou, Stephanie, Ghayoor Karimiani, Ehsan, Hempel, Maja, Normand, Elizabeth A, Rudnik-Schöneborn, Sabine, Schatz, Ulrich A, Baggelaar, Marc P, Ilyas, Muhammad, Sultan, Tipu, Alvi, Javeria Raza, Ganieva, Manizha, Fowler, Ben, Aanicai, Ruxandra, Akay Tayfun, Gulsen, Al Saman, Abdulaziz, Alswaid, Abdulrahman, Amiri, Nafise, Asilova, Nilufar, Shotelersuk, Vorasuk, Yeetong, Patra, Azam, Matloob, Babaei, Meisam, Bahrami Monajemi, Gholamreza, Mohammadi, Pouria, Samie, Saeed, Banu, Selina Husna, Basto, Jorge Pinto, Kortüm, Fanny, Bauer, Mislen, Bauer, Peter, Beetz, Christian, Garshasbi, Masoud, Hameed Issa, Awatif, Eyaid, Wafaa, Ahmed, Hind, Hashemi, Narges, Hassanpour, Kazem, Herman, Isabella, Ibrohimov, Sherozjon, Abdul-Majeed, Ban A, Imdad, Maria, Isrofilov, Maksudjon, Kaiyal, Qassem, Khan, Suliman, Kirmse, Brian, Koster, Janet, Lourenço, Charles Marques, Mitani, Tadahiro, Moldovan, Oana, Murphy, David, Najafi, Maryam, Pehlivan, Davut, Rocha, Maria Eugenia, Salpietro, Vincenzo, Schmidts, Miriam, Shalata, Adel, Mahroum, Mohammad, Talbeya, Jawabreh Kassem, Taylor, Robert W, Vazquez, Dayana, Vetro, Annalisa, Waterham, Hans R, Zaman, Mashaya, Schrader, Tina A, Chung, Wendy K, Guerrini, Renzo, Lupski, James R, Gleeson, Joseph, Suri, Mohnish, Jamshidi, Yalda, Bhatia, Kailash P, Vona, Barbara, Schrader, Michael, Severino, Mariasavina, Guille, Matthew, Tate, Edward W, Varshney, Gaurav K, Houlden, Henry, Maroofian, Reza

المساهمون: Sub Biomol.Mass Spectrometry & Proteom., Biomolecular Mass Spectrometry and Proteomics

مصطلحات موضوعية: ACBD6, N-myristoylation, ataxia, dystonia, neurodegeneration, parkinsonism

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/438070

الاتاحة: https://dspace.library.uu.nl/handle/1874/438070

المؤلفون: Sonia, Sheikh Farjana, Zaman, Mashaya, Mahmood, Ehsan, Hassan, Mohammad Sayeed, Banu, Selina Husna

المصدر: Journal of National Institute of Neurosciences Bangladesh; Vol. 9 No. 2 (2023); 151-156 ; 2518-6612 ; 2410-8030

مصطلحات موضوعية: Congenital dermal sinus, Tethered cord syndrome

Time: Bangladesh

وصف الملف: application/pdf

Relation: https://www.banglajol.info/index.php/JNINB/article/view/65396/47861; https://www.banglajol.info/index.php/JNINB/article/view/65396

الاتاحة: https://www.banglajol.info/index.php/JNINB/article/view/65396

المؤلفون: Kaiyrzhanov, Rauan, Rad, Aboulfazl, Lin, Sheng-Jia, Bertoli-Avella, Aida, Kallemeijn, Wouter W, Godwin, Annie, Zaki, Maha S, Huang, Kevin, Lau, Tracy, Petree, Cassidy, Efthymiou, Stephanie, Ghayoor Karimiani, Ehsan, Hempel, Maja, Normand, Elizabeth A, Rudnik-Schöneborn, Sabine, Schatz, Ulrich A, Baggelaar, Marc P, Ilyas, Muhammad, Sultan, Tipu, Alvi, Javeria Raza, Ganieva, Manizha, Fowler, Ben, Aanicai, Ruxandra, Akay Tayfun, Gulsen, Al Saman, Abdulaziz, Alswaid, Abdulrahman, Amiri, Nafise, Asilova, Nilufar, Shotelersuk, Vorasuk, Yeetong, Patra, Azam, Matloob, Babaei, Meisam, Bahrami Monajemi, Gholamreza, Mohammadi, Pouria, Samie, Saeed, Banu, Selina Husna, Basto, Jorge Pinto, Kortüm, Fanny, Bauer, Mislen, Bauer, Peter, Beetz, Christian, Garshasbi, Masoud, Hameed Issa, Awatif, Eyaid, Wafaa, Ahmed, Hind, Hashemi, Narges, Hassanpour, Kazem, Herman, Isabella, Ibrohimov, Sherozjon, Abdul-Majeed, Ban A, Imdad, Maria, Isrofilov, Maksudjon, Kaiyal, Qassem, Khan, Suliman, Kirmse, Brian, Koster, Janet, Lourenço, Charles Marques, Mitani, Tadahiro, Moldovan, Oana, Murphy, David, Najafi, Maryam, Pehlivan, Davut, Rocha, Maria Eugenia, Salpietro, Vincenzo, Schmidts, Miriam, Shalata, Adel, Mahroum, Mohammad, Talbeya, Jawabreh Kassem, Taylor, Robert W, Vazquez, Dayana, Vetro, Annalisa, Waterham, Hans R, Zaman, Mashaya, Schrader, Tina A, Chung, Wendy K, Guerrini, Renzo, Lupski, James R, Gleeson, Joseph, Suri, Mohnish, Jamshidi, Yalda, Bhatia, Kailash P, Vona, Barbara, Schrader, Michael, Severino, Mariasavina, Guille, Matthew, Tate, Edward W, Varshney, Gaurav K, Houlden, Henry, Maroofian, Reza

المصدر: Brain (2023) (In press).

مصطلحات موضوعية: ACBD6, neudegeneration, dystonia, ataxia, parkinsonism, N-myristoylation

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10181376/1/awad380-2.pdf; https://discovery.ucl.ac.uk/id/eprint/10181376/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10181376/1/awad380-2.pdf
https://discovery.ucl.ac.uk/id/eprint/10181376/

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, Hannah, Michael G., Bugiardini, Enrico, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Groppa, Stanislav, Karashova, Blagovesta Marinova, Di Rosa, Gabriella, Goraya, Jatinder S., Sultan, Tipu, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Veggiotti, Pierangelo, Verrotti, Alberto, Savasta, Salvatore, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savvas, Compagnoni, Chiara, Piccirilli, Alessandra, Vikelis, Michail, Chelban, Viorica, Kaiyrzhanov, Rauan, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat Noureen, 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, Alkuraya, Fowzan S., Rizig, Mie, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Xiromerisiou, Georgia, Spanaki, Cleanthe, Tucci, Arianna, Fiorillo, Chiara, Rissotto, Federico, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Gitto, Eloisa, Cuppari, Caterina, Romeo, Carmelo, Magrinelli, Francesca, Gupta, Neerja, Kabra, Madhulika, Benrhouma, Hanene, Tazir, Meriem, Zagaroli, Luca, Caloisi, Claudia, Fabiano, Cecilia, Bottone, Gabriella, Farello, Giovanni, Di Fabio, Sandra, Obeid, Makram, Bakhtadze, Sophia, Saadi, Nebal W., Zaki, Maha S., Triki, Chahnez C., Kara, Majdi, Belcastro, Vincenzo, Specchio, Nicola, Karimiani, Ehsan G., Salih, Ahmed M., Ramenghi, Luca A., David, Emanuele, Curró, Riccardo, Iezzi, Maria Laura, Iapadre, Giulia, Nanni, Giuliana, Scorrano, Giovanna, Fiorile, Maria F., Brancati, Francesco, Di Falco, Giovanna, Mandarà, Luana, Barrano, Giuseppe, Elia, Maurizio, Terrone, Gaetano, Operto, Francesca F., Valenzise, Mariella, Della Rocca, Ylenia, Zazzeroni, Francesca, Alesse, Edoardo, Manti, Filippo, Galosi, Serena, Nardecchia, Francesca, Leuzzi, Vincenzo, Pironti, Erica, Amore, Greta, Ceravolo, Giorgia, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Javed, Iram, Rahman, Fatima, Ahmed, Muhammad Mehboob, Parisi, Pasquale, Borgia, Paola, Mangano, Giuseppe D., Chiarelli, Francesco, Andrea Accogli, Petree, Cassidy, Huang, Kevin, Monastiri, Kamel, Edizadeh, Masoud, Nardello, Rosaria, Ognibene, Marzia, De Marco, Patrizia, Ruggieri, Martino, Zara, Federico, 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

المساهمون: 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 Martin, Hannah, Michael G., Bugiardini, Enrico, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Groppa, Stanislav, Karashova, Blagovesta Marinova, Di Rosa, Gabriella, Goraya, Jatinder S., Sultan, Tipu, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Veggiotti, Pierangelo, Verrotti, Alberto, Savasta, Salvatore, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savva, Compagnoni, Chiara, Piccirilli, Alessandra, Vikelis, Michail, Chelban, Viorica, Kaiyrzhanov, Rauan, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Zamba, Dardiotis, Efthymio, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat Noureen, 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, Alkuraya, Fowzan S., Rizig, Mie, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Xiromerisiou, Georgia, Spanaki, Cleanthe, Tucci, Arianna, Fiorillo, Chiara, Rissotto, Federico, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Gitto, Eloisa, Cuppari, Caterina, Romeo, Carmelo, Magrinelli, Francesca, Gupta, Neerja, Kabra, Madhulika, Benrhouma, Hanene, Tazir, Meriem, Zagaroli, Luca, Caloisi, Claudia, Fabiano, Cecilia, Bottone, Gabriella, Farello, Giovanni, Di Fabio, Sandra, Obeid, Makram, Bakhtadze, Sophia, Saadi, Nebal W.

مصطلحات موضوعية: Human mediator complex, MED11, MEDopathies

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/36001086; info:eu-repo/semantics/altIdentifier/wos/WOS:000879580900020; volume:24; issue:10; firstpage:2194; lastpage:2203; numberofpages:10; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11570/3239134; https://www.sciencedirect.com/science/article/pii/S1098360022008504?via=ihub

الاتاحة: https://hdl.handle.net/11570/3239134
https://doi.org/10.1016/j.gim.2022.07.013
https://www.sciencedirect.com/science/article/pii/S1098360022008504?via=ihub

المؤلفون: Banu, Selina Husna

مصطلحات موضوعية: 618.92853

الاتاحة: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.409336

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

المساهمون: Salpietro, Vincenzo, Maroofian, Reza, Zaki, Maha S., Wangen, Jamie, Ciolfi, Andrea, Barresi, Sabina, Efthymiou, Stephanie, Lamaze, Angelique, Aughey, Gabriel N., Al Mutairi, Fuad, Rad, Aboulfazl, Rocca, Clarissa, Calì, Elisa, Accogli, Andrea, Zara, Federico, Striano, Pasquale, Mojarrad, Majid, Tariq, Huma, Giacopuzzi, Edoardo, Taylor, Jenny C., Oprea, Gabriela, Skrahina, Volha, Rehman, Khalil Ur, Abd Elmaksoud, Marwa, Bassiony, Mahmoud, El Said, Huda G., Abdel-Hamid, Mohamed S., Al Shalan, Maha, Seo, Gohun, Kim, Sohyun, Lee, Hane, Khang, Rin, Issa, Mahmoud Y., Elbendary, Hasnaa M., Rafat, Karima, Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Ververi, Athina, Sourmpi, Mara, Eslahi, Atieh, Khadivi Zand, Farhad, Beiraghi Toosi, Mehran, Babaei, Meisam, Jackson, Adam, Hannah, Michael G., Bugiardini, Enrico, Bertini, Enrico, Kriouile, Yamna, El-Khorassani, Mohamed, Aguennouz, Mhammed, Groppa, Stanislav, Karashova, Blagovesta M., Goraya, Jatinder S., 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, Papanicolaou, Eleni Z., Dardiotis, Efthymio, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat N., Atawneh, Osama, Lim, Shen-Yang, Zuccotti, Gian V., Marseglia, Gian L., Esposito, Susanna, Shaikh, Farooq, Cogo, Paola, Corsello, Giovanni, Mangano, Salvatore, Nardello, Rosaria, Mangano, Donato, Scardamaglia, Annarita, Koutsis, George, Scuderi, Carmela, Ferrara, Pietro, Morello, Giovanna, Zollo, Massimo, Berni-Canani, Roberto, Terracciano, Luigi M., Sisto, Antonio, Di Fabio, Sandra, Strano, Federica

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

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001158522000001; volume:111; issue:1; firstpage:200; lastpage:210; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11381/2993273; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85180561163

الاتاحة: https://hdl.handle.net/11381/2993273
https://doi.org/10.1016/j.ajhg.2023.11.012

المؤلفون: Genetica Klinische Genetica, Child Health, MS Radiologie, Circulatory Health, MS Neonatologie, Sidpra, Jai, Sudhakar, Sniya, Biswas, Asthik, Massey, Flavia, Turchetti, Valentina, Lau, Tracy, Cook, Edward, Alvi, Javeria Raza, Elbendary, Hasnaa M, Jewell, Jerry L, Riva, Antonella, Orsini, Alessandro, Vignoli, Aglaia, Federico, Zara, Rosenblum, Jessica, Schoonjans, An-Sofie, de Wachter, Matthias, Delgado Alvarez, Ignacio, Felipe-Rucián, Ana, Haridy, Nourelhoda A, Haider, Shahzad, Zaman, Mashaya, Banu, Selina, Anwaar, Najwa, Rahman, Fatima, Maqbool, Shazia, Yadav, Rashmi, Salpietro, Vincenzo, Maroofian, Reza, Patel, Rajan, Radhakrishnan, Rupa, Prabhu, Sanjay P, Lichtenbelt, Klaske, Stewart, Helen, Murakami, Yoshiko, Löbel, Ulrike, D'Arco, Felice, Wakeling, Emma, Jones, Wendy, Hay, Eleanor, Bhate, Sanjay, Jacques, Thomas S, Mirsky, David M, Whitehead, Matthew T, Zaki, Maha S, Sultan, Tipu, Striano, Pasquale, Jansen, Anna C, Lequin, Maarten, de Vries, Linda S, Severino, Mariasavina, Edmondson, Andrew C, Menzies, Lara, Campeau, Philippe M, Houlden, Henry, McTague, Amy, Efthymiou, Stephanie, Mankad, Kshitij

URL: https://doi.org/10.1093/brain/awae056
http://hdl.handle.net/1874/454832
https://dspace.library.uu.nl/handle/1874/454832
http://www.scopus.com/inward/record.url?scp=85200243429&partnerID=8YFLogxK
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147
8

المؤلفون: Sub Biomol.Mass Spectrometry & Proteom., Biomolecular Mass Spectrometry and Proteomics, Kaiyrzhanov, Rauan, Rad, Aboulfazl, Lin, Sheng-Jia, Bertoli-Avella, Aida, Kallemeijn, Wouter W, Godwin, Annie, Zaki, Maha S, Huang, Kevin, Lau, Tracy, Petree, Cassidy, Efthymiou, Stephanie, Ghayoor Karimiani, Ehsan, Hempel, Maja, Normand, Elizabeth A, Rudnik-Schöneborn, Sabine, Schatz, Ulrich A, Baggelaar, Marc P, Ilyas, Muhammad, Sultan, Tipu, Alvi, Javeria Raza, Ganieva, Manizha, Fowler, Ben, Aanicai, Ruxandra, Akay Tayfun, Gulsen, Al Saman, Abdulaziz, Alswaid, Abdulrahman, Amiri, Nafise, Asilova, Nilufar, Shotelersuk, Vorasuk, Yeetong, Patra, Azam, Matloob, Babaei, Meisam, Bahrami Monajemi, Gholamreza, Mohammadi, Pouria, Samie, Saeed, Banu, Selina Husna, Basto, Jorge Pinto, Kortüm, Fanny, Bauer, Mislen, Bauer, Peter, Beetz, Christian, Garshasbi, Masoud, Hameed Issa, Awatif, Eyaid, Wafaa, Ahmed, Hind, Hashemi, Narges, Hassanpour, Kazem, Herman, Isabella, Ibrohimov, Sherozjon, Abdul-Majeed, Ban A, Imdad, Maria, Isrofilov, Maksudjon, Kaiyal, Qassem, Khan, Suliman, Kirmse, Brian, Koster, Janet, Lourenço, Charles Marques, Mitani, Tadahiro, Moldovan, Oana, Murphy, David, Najafi, Maryam, Pehlivan, Davut, Rocha, Maria Eugenia, Salpietro, Vincenzo, Schmidts, Miriam, Shalata, Adel, Mahroum, Mohammad, Talbeya, Jawabreh Kassem, Taylor, Robert W, Vazquez, Dayana, Vetro, Annalisa, Waterham, Hans R, Zaman, Mashaya, Schrader, Tina A, Chung, Wendy K, Guerrini, Renzo, Lupski, James R, Gleeson, Joseph, Suri, Mohnish, Jamshidi, Yalda, Bhatia, Kailash P, Vona, Barbara, Schrader, Michael, Severino, Mariasavina, Guille, Matthew, Tate, Edward W, Varshney, Gaurav K, Houlden, Henry, Maroofian, Reza

URL: https://doi.org/10.1093/brain/awad380
http://hdl.handle.net/1874/438070
https://dspace.library.uu.nl/handle/1874/438070
http://www.scopus.com/inward/record.url?scp=85190176151&partnerID=8YFLogxK
0006-8950
Brain
147
4
1436
1456

المؤلفون: Klöckner, Chiara, Murray, J Pedro Fernandez, Tavasoli, Mahtab, Sticht, Heinrich, Stoltenburg-Didinger, Gisela, Scholle, Leila Motlagh, Bakhtiari, Somayeh, Kruer, Michael C, Darvish, Hossein, Firouzabadi, Saghar Ghasemi, Pagnozzi, Alex, Shukla, Anju, Girisha, Katta Mohan, Narayanan, Dhanya Lakshmi, Kaur, Parneet, Maroofian, Reza, Zaki, Maha S, Noureldeen, Mahmoud M, Merkenschlager, Andreas, Gburek-Augustat, Janina, Cali, Elisa, Banu, Selina, Nahar, Kamrun, Efthymiou, Stephanie, Houlden, Henry, Jamra, Rami Abou, Williams, Jason, McMaster, Christopher R, Platzer, Konrad

المصدر: Brain , 145 (6) pp. 1916-1923. (2022)

مصطلحات موضوعية: Kennedy pathway, choline kinase alpha, epilepsy, exome sequencing, neurodevelopmental disorder

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10144526/1/awac074.pdf; https://discovery.ucl.ac.uk/id/eprint/10144526/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10144526/1/awac074.pdf
https://discovery.ucl.ac.uk/id/eprint/10144526/

المؤلفون: Afroze, Farhana, Haque, Munimul, Banu, Selina Husna, Alam, Rafiul

المصدر: Journal of Enam Medical College; Vol. 10 No. 3 (2020); 143-152 ; 2304-9316 ; 2227-6688

مصطلحات موضوعية: Cognitive deficits, Behavioral problems, Maternal employment

Time: Bangladesh

وصف الملف: application/pdf

Relation: https://www.banglajol.info/index.php/JEMC/article/view/59355/41075; https://www.banglajol.info/index.php/JEMC/article/view/59355

الاتاحة: https://www.banglajol.info/index.php/JEMC/article/view/59355

المؤلفون: Klöckner, Chiara, Fernández-Murray, J Pedro, Tavasoli, Mahtab, Sticht, Heinrich, Stoltenburg-Didinger, Gisela, Scholle, Leila Motlagh, Bakhtiari, Somayeh, Kruer, Michael C, Darvish, Hossein, Firouzabadi, Saghar Ghasemi, Pagnozzi, Alex, Shukla, Anju, Girisha, Katta Mohan, Narayanan, Dhanya Lakshmi, Kaur, Parneet, Maroofian, Reza, Zaki, Maha S, Noureldeen, Mahmoud M, Merkenschlager, Andreas, Gburek-Augustat, Janina, Cali, Elisa, Banu, Selina, Nahar, Kamrun, Efthymiou, Stephanie, Houlden, Henry, Jamra, Rami Abou, Williams, Jason, McMaster, Christopher R, Platzer, Konrad

المساهمون: Canadian Institutes of Health Research, NIH, International Centre for Genomic Medicine in Neuromuscular Diseases, Wellcome Trust and strategic, Queen Square Genomics group, University College London, National Institute for Health Research, University College London Hospitals Biomedical Research Centre

المصدر: Brain ; volume 145, issue 6, page 1916-1923 ; ISSN 0006-8950 1460-2156

الاتاحة: https://doi.org/10.1093/brain/awac074
https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awac074/43953736/awac074.pdf
https://academic.oup.com/brain/article-pdf/145/6/1916/46768323/awac074.pdf

المؤلفون: Garavaglia, Barbara, van den Maagdenberg, Arn M J M, Verrotti, Alberto, Al-Ajmi, Abdullah, Sardar, Zomer, Zholdasova, Zhibek, Tavadyan, Zaruhi, Obiabo, Yahaya, Nachbauer, Wolfgang, Chelban, Viorica, Salpietro, Vincenzo, Guliyeva, Ulviyya, Williams, Uduak, Stojkovic, Tanya, Guliyeva, Sughra, Efthymiou, Stephanie, Portaro, Simona, Khachatryan, Samson, Savasta, Salvatore, Ibadova, Rima, Boles, Richard, Maroofian, Reza, Kaiyrzhanov, Rauan, Kazadi, Prince, Nicolaides, Paola, Atawneh, Osama, Ojo, Oluwadamilola O, Ekenze, Oluchi, Oguntunde, Olapeju, Noureen Rana, Nuzhat, Zharkynbekova, Nazira, Tabatadze, Nazi, Vikelis, Michail, García-Silva, Mayte, Kekenadze, Mariam, Isayan, Mariam, Ganieva, Manizha, Beridze, Maia, Taiwo, Lolade, Fidani, Liana, Arning, Larissa, Senkevich, Konstantin, Moodley, Kaminie, Salayev, Kamran, Koneyev, Kairgali, Al-Khawaja, Issam, Javed, Iram, Tomoum, Hoda, Kathom, Hadil, Morello, Giovanna, Melikishvili, Gia, Xiromerisiou, Georgia, Heimer, Gali, Di Rosa, Gabriella, Al-Mutairi, Fuad, Shaikh, Farooq, Borgione, Eugenia, Afzal, Erum, Nwazor, Ernest, Torti, Erin, Dardiotis, Efthymios, Spanaki, Cleanthe, Shashkin, Chingiz, Scuderi, Carmela, Sanlidag, Burcin, Marinova Karashova, Blagovesta, Sukhudyan, Biayna, Monteagudo Sanchez, Benigno, Pérez-Dueñas, Belen, Muhammad, Anees, Gevorgyan, Ani, Nabil, Amira, Macaya Ruiz, Alfons, Iyagba, Alagoma, Bello, Abiodun H, Houlden, Henry, Jepson, James E C, Severino, Mariasavina, Baig, Shahid Mahmood, Taylor, Jenny C, Gleeson, Joseph G, Banka, Siddharth, Wright, Thomas, Kershaw, Christopher, Chandler, Kate, Maqbool, Shazia, Naz, Sadaf, Chung, Wendy K, Krioulie, Yamna, Kayserili, Hülya, Beetz, Christian, Seo, Go Hun, Badv, Reza Shervin, Siraj, Muhammad, Hayat, Azam, Giacopuzzi, Edoardo, Lord, Jenny, Ur Rehman, Mujaddad, Murtaza, Bibi Nazia, Rossi, Massimiliano, Chatron, Nicolas, Lesca, Gaetan, Rhouda, Hajar, Yttervik, Hilde, Flemming, Kristina, Murphy, David, Shoukier, Moneef, Kraus, Verena, Altunoglu, Umut, McFarland, Robert, Robin, Stephanie, Morel, Godelieve, Anjum, Muhammad Nadeem, Cheema, Huma Arshad, Fatima, Ambrin, Saadi, Saadia Maryam, Ghizlane, Zouiri, Aguennouz, Mohammed, Roze, Emmanuel, Suri, Mohnish, Shafique, Anum, Menzies, Lara, Rahman, Fatima, Abdulllah, Uzma, Ali, Zafar, Pagnamenta, Alistair T, Zaki, Maha S, Cali, Elisa, Aughey, Gabriel N, Per, HÜSEYİN, Zhumakhanov, Dauren, Dauvilliers, Yves A, Sultan, Tipu, Boesch, Sylvia, Groppa, Stanislav, Ahmed Hamed, Sherifa, Lim, Shen-Yang, Ibrahim, Shahnaz, Banu, Selina, Papacostas, Savvas, Abubakar, Sanni, Mangano, Salvatore, Kirmani, Salman, Tincheva, Radka, Veggiotti, Pierangelo, Striano, Pasquale, Okubadejo, Njideka U, Komolafe, Morenikeji, El Khorassani, Mohamed, Abd El Hamed, Mohamed A, Ferrari, Michel D, Aguennouz, Mhammed, Pineda-Marfa, Mercedes, Zollo, Massimo, Wahab, Kolawole, Mine, Jun, Goraya, Jatinder S, Önemli Mungan, Halise Neslihan, Marseglia, Giangluigi, Koutsis, George, Silvestri, Gabriella, Alkuraya, Fowzan S, Zamba Papanicolaou, Eleni, Avdjieva, Daniela, Timmann, Dagmar, Cormand, Bru

الاتاحة: https://doi.org/10.1093/brain/awae363
https://avesis.erciyes.edu.tr/publication/details/f4dc189c-1e94-48f3-8fde-3a04b12e4171/oai

المؤلفون: Weerts, Marjolein J.A., Lanko, Kristina, Guzmán-Vega, Francisco J., Jackson, Adam, Ramakrishnan, Reshmi, Cardona-Londoño, Kelly J., Peña-Guerra, Karla A., van Bever, Yolande, van Paassen, Barbara W., Kievit, Anneke, van Slegtenhorst, Marjon, Allen, Nicholas M., Kehoe, Caroline M., Robinson, Hannah K., Pang, Lewis, Banu, Selina H., Zaman, Mashaya, Efthymiou, Stephanie, Houlden, Henry, Järvelä, Irma, Lauronen, Leena, Määttä, Tuomo, Schrauwen, Isabelle, Leal, Suzanne M., Ruivenkamp, Claudia A.L., Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M.P.C.D., Galehdari, Hamid, Mazaheri, Neda, Sisodiya, Sanjay M., Harrison, Victoria, Sun, Angela, Thies, Jenny, Pedroza, Luis Alberto, Lara-Taranchenko, Yana, Chinn, Ivan K., Lupski, James R., Garza-Flores, Alexandra, McGlothlin, Jeffery, Yang, Lin, Huang, Shaoping, Wang, Xiaodong, Jewett, Tamison, Rosso, Gretchen, Lin, Xi, Mohammed, Shehla, Merritt, J. Lawrence, Willemsen, Marjolein, Gilissen, Christian, Barakat, Tahsin Stefan

المصدر: Weerts , M J A , Lanko , K , Genomics England Research Consortium , Guzmán-Vega , F J , Jackson , A , Ramakrishnan , R , Cardona-Londoño , K J , Peña-Guerra , K A , van Bever , Y , van Paassen , B W , Kievit , A , van Slegtenhorst , M , Allen , N M , Kehoe , C M , Robinson , H K , Pang , L , Banu , S H , Zaman , M , Efthymiou , S , Houlden , H , Järvelä , I , Lauronen ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/4ff553b5-9d22-4872-b9f5-68d1b29f9dd5
https://doi.org/10.1038/s41436-021-01246-2
https://pure.eur.nl/ws/files/43469843/Delineating_the_molecular_and_phenotypic_spectrum_of_the_SETD1B_related_syndrome.pdf
http://www.scopus.com/inward/record.url?scp=85112668367&partnerID=8YFLogxK

المؤلفون: Banu, Selina Husna

مصطلحات موضوعية: 618.92853

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.409336

المؤلفون: Salpietro, Vincenzo, Malintan, Nancy T., Llano-Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C., Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Karashova, Blagovesta, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Pironti, Erica, Goraya, Jatinder S., Sultan, Tipu, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida, Mine, Jun, Banu, Selina, Veggiotti, Pierangelo, Ferrari, Michel D., Verrotti, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, Garavaglia, Barbara, Scuderi, Carmela, Borgione, Eugenia, Dipasquale, Valeria, Cutrupi, Maria Concetta, Portaro, Simona, Sanchez, Benigno Monteagudo, Pineda-Marfa, Mercedes, Munell, Francina, Macaya, Alfons, Boles, Richard, Heimer, Gali, Papacostas, Savvas, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G., Rothman, James E., Kullmann, Dimitri M., Houlden, Henry, Bello, Oscar D., De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E., Krishnakumar, Shyam S.

المساهمون: Salpietro, Vincenzo, Malintan, Nancy T., Llano-Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C., Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Karashova, Blagovesta, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Pironti, Erica, Goraya, Jatinder S., Sultan, Tipu, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida, Mine, Jun, Banu, Selina, Veggiotti, Pierangelo, Ferrari, Michel D., Verrotti, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, Garavaglia, Barbara, Scuderi, Carmela, Borgione, Eugenia, Dipasquale, Valeria, Cutrupi, Maria Concetta, Portaro, Simona, Sanchez, Benigno Monteagudo, Pineda-Marfa, Mercede, Munell, Francina, Macaya, Alfon, Boles, Richard, Heimer, Gali, Papacostas, Savva, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G., Rothman, James E., Kullmann, Dimitri M., Houlden, Henry, Bello, Oscar D., De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E., Krishnakumar, Shyam S.

مصطلحات موضوعية: autism, epilepsy, movement disorders, neurodevelopmental disorders, neuronal exocytosis, SNARE, synaptobrevin, synaptopathy, VAMP2, vesicle fusion, Genetics, Genetics (clinical)

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/30929742; info:eu-repo/semantics/altIdentifier/wos/WOS:000463474700012; volume:104; issue:4; firstpage:721; lastpage:730; numberofpages:10; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11570/3138980; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063684737; https://www.cell.com/ajhg/fulltext/S0002-9297(19)30061-8

الاتاحة: http://hdl.handle.net/11570/3138980
https://doi.org/10.1016/j.ajhg.2019.02.016
https://www.cell.com/ajhg/fulltext/S0002-9297(19)30061-8

المؤلفون: Neuray, Caroline, Maroofian, Reza, Scala, Marcello, Sultan, Tipu, Pai, Gurpur Shashidhar, Mojarrad, Majid, Khashab, Heba Youssef E.L., deHoll, Leigh, Yue, Wyatt Wai Yin, Alsaif, Hessa S., Zanetti, María Natalia, Bello, Oscar, Person, Richard Erwin, Eslahi, Atieh, Khazaei, Zaynab, Feizabadi, Masoumeh Heidari, Efthymiou, Stephanie, El-Bassyouni, Hala Tabie, Soliman, Doaa Refaey, Tekeş, Selahattin, Özer, Leyla, Baltacı, Volkan, Khan, Suliman, Beetz, Christian, Amr, Khalda, Salpietro, Vincenzo, Jamshidi, Yalda, Alkuraya., Fowzan S., Houlden, Henry H., Groppa, Stanislav A., Karashova, Blagovesta Marinova, Nachbauer, Wolfgang, Boesch, Sylvia M., Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belén, Di Rosa, Gabriella, Goraya, Jatinder Singh, Mine, June, Avdjieva-Tzavella, Daniela Mircheva, Kathom, Hadil Mohamed, Tincheva, Radka Stefanova, Banu, Selina H., Pineda-Marfà, Mercedes, Veggiotti, Pierangelo, Ferrari, Michel D., Verrottï, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, García-Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Sanchez, Benigno Monteagudo, Boles, Richard G., Papacostas, Savvas S., Vikelis, Michail, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz Hamid, Kirmani, Salman, Rana, Nuzhat Noureen, Atawneh, Osama M., Koutsis, Georgios, Breza, Marianthi, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Stojkovic, Tanya, Zollo, M., Heimer, Gali, Dauvilliers, Yves A., Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, Sherifa, Hamed

مصطلحات موضوعية: Cleft palate, Epilepsy, GAD1, Muscle weakness, Neurodevelopmental delay

وصف الملف: application/pdf

Relation: Brain; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Neuray, C., Maroofian, R., Scala, M., Sultan, T., Pai, G. S., Mojarrad, M. ve diğerleri. (2020). Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants. Brain, 143(8), 2388-2397.; https://academic.oup.com/brain/article/143/8/2388/5875729; https://hdl.handle.net/11468/7447; 143; 2388; 2397; WOS:000825023900016; 2-s2.0-85090075296; Q1

الاتاحة: https://hdl.handle.net/11468/7447
https://academic.oup.com/brain/article/143/8/2388/5875729
https://doi.org/10.1093/brain/awaa178

المؤلفون: Salpietro, Vincenzo, Dixon, Christine L., Guo, Hui, Bello, Oscar D., Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andreas, Chen, Sharon, Pisani, Laura, Bettencourt, Conceição, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G., Santiago-Sim, Teresa, Person, Richard E., Cho, Megan T., Willaert, Rebecca, Yoo, Kristin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A., Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M., Jaeger, Bregje, Schneider, Amy L., Boysen, Katja, Muir, Alison M., Myers, Candance T., Gavrilova, Ralitza H., Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W., Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, González-Peñas, Javier, Carracedo, Ãngel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Hanna, Michael, Bugiardini, Enrico, Hostettler, Isabel Charlotte, O'Callaghan, Benjamin, Khan, Alaa, Cortese, Andrea, O'Connor, Emer, Yau, Wai Y., Bourinaris, Thomas, Kaiyrzhanov, Rauan, Chelban, Viorica, Madej, Monika, Diana, Maria C., Vari, Maria S., Pedemonte, Marina, Bruno, Claudio, Balagura, Ganna, Scala, Marcello, Fiorillo, Chiara, Nobili, Lino, Malintan, Nancy T., Zanetti, Maria N., Krishnakumar, Shyam S., Lignani, Gabriele, Jepson, James E. C., Broda, Paolo, Baldassari, Simona, Rossi, Pia, Fruscione, Floriana, Madia, Francesca, Traverso, Monica, De-Marco, Patrizia, Pérez-Dueñas, Belén, Munell Casadesus, Francina, Kriouile, Yamna, El-Khorassani, Mohamed, Karashova, Blagovesta, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Van-Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Gagliano, Antonella, Amadori, Elisabetta, Goraya, Jatinder S., Sultan, Tipu, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida, Mine, Jun, Banu, Selina, Veggiotti, Pierangelo, Zuccotti, Gian V., Ferrari, Michel D., Van Den Maagdenberg, Arn M. J., Verrotti, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, Soler, Miguel A., Scuderi, Carmela, Borgione, Eugenia, Chimenz, Roberto, Gitto, Eloisa, Dipasquale, Valeria, Sallemi, Alessia, Fusco, Monica, Cuppari, Caterina, Cutrupi, Maria C., Ruggieri, Martino, Cama, Armando, Capra, Valeria, Mencacci, Niccolò Emanuele, Boles, Richard, Gupta, Neerja, Kabra, Madhulika, Papacostas, Savvas, Zamba-Papanicolaou, Eleni, Dardiotis, Efthimios, Maqbool, Shazia, Rana, Nuzhat, Atawneh, Osama, Lim, Shen Y., Shaikh, Mohmad Farooq, Koutsis, George, Breza, Marianthi, Coviello, Domenico, Dauvilliers, Yves, AlKhawaja, Issam, AlKhawaja, Mariam, Al-Mutairi, Fuad, Stojkovic, Tanya, Ferrucci, Veronica, Zollo, Massimo, Alkuraya, Fowzan S, Kinali, Maria, Sherifa, Hamed, Benrhouma, Hanene, Turki, Ilhem B. Y., Tazir, Meriem, Obeid, Makram, Bakhtadze, Sophia, Saadi, Marianthi W., Zaki, Maha, Triki, Chahnez C., Benfenati, Fabio, Gustincich, Stefano, Kara, Majdi, Belcastro, Vincenzo, Specchio, Nicola, Capovilla, Giuseppe, Karimiani, Ehsan G., Salih, Ahmed M., Okubadejo, Njideka, Ojo, Oluwadamilola, Oshinaike, Olajumoke O., Oguntunde, Olapeju, Wahab, Kolawole Wasiu, Bello, Abiodun H., Abubakar, Sanni, Obiabo, Yahaya, Nwazor, Ernest, Ekenze, Oluchi, Williams, Uduak, Iyagba, Alagoma, Taiwo, Lolade, Komolafe, Morenikeji, Senkevich, Konstantin, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson G., Rossi, Salvatore, Silvestri, Gabriella, Haridy, Nourelhoda A., Ramenghi, Luca A., Xiromerisiou, Georgia, David, Emanuele, Aguennouz, M'hammed, Fidani, Lliana, Spanaki, Cleanthe, Tucci, Arianna, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N., De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Boris, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C., Scheffer, Ingrid E., Clayton-Smith, Jill, Macaya Ruiz, Alfons, Rothman, James E., Eichler, Evan E, Kullmann, Dimitri M., Houlden, Henry, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Next-generation sequencing, Synaptic development, Ion channels in the nervous system, Neurodevelopmental disorders, Adolescent, Adult, Brain, Child, Preschool, Cohort Studies, Female, Heterozygote, Humans, Infant, Intellectual Disability, Loss of Function Mutation, Magnetic Resonance Imaging, Male, Receptors, AMPA, Young Adult

وصف الملف: application/pdf

Relation: European Commission 305121; European Commission 779257; Nature communications; Vol. 10 Núm. 1 (january 2019), p. 3094; https://ddd.uab.cat/record/224184; urn:10.1038/s41467-019-10910-w; urn:oai:ddd.uab.cat:224184; urn:scopus_id:85068965744; urn:articleid:20411723v10n1p3094; urn:pmid:31300657; urn:pmc-uid:6626132; urn:pmcid:PMC6626132; urn:oai:pubmedcentral.nih.gov:6626132; urn:oai:egreta.uab.cat:publications/ccd2fd7d-1cee-409d-8d9b-600a16de1ae5

الاتاحة: https://ddd.uab.cat/record/224184

المؤلفون: Efthymiou, Stephanie, Salpietro, Vincenzo, Malintan, Nancy, Poncelet, Mallory, Kriouile, Yamna, Fortuna, Sara, De Zorzi, Rita, Payne, Katelyn, Henderson, Lindsay B, Cortese, Andrea, Maddirevula, Sateesh, Alhashmi, Nadia, Wiethoff, Sarah, Ryten, Mina, Botia, Juan A, Provitera, Vincenzo, Schuelke, Markus, Vandrovcova, Jana, Groppa, Stanislav, Karashova, Blagovesta Marinova, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Goraya, Jatinder S, Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Pineda-Marfa, Mercedes, Veggiotti, Pierangelo, Ferrari, Michel D, van den Maagdenberg, Arn M J M, Verrotti, Alberto, Marseglia, Giangluigi, Savasta, Salvatore, García-Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Sanchez, Benigno Monteagudo, Boles, Richard, Papacostas, Savvas, Vikelis, Michail, Rothman, James

المساهمون: Wellcome Trust, National Institute for Health Research University, MDUK, Muscular Dystrophy Association, Radboudumc and RIMLS Nijmegen, Ministry of Science, Research and the Arts of Baden-Württemberg, European Social Fund

المصدر: Brain ; volume 142, issue 10, page 2948-2964 ; ISSN 0006-8950 1460-2156

الاتاحة: http://dx.doi.org/10.1093/brain/awz248
http://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awz248/29955661/awz248.pdf
http://academic.oup.com/brain/article-pdf/142/10/2948/30071464/awz248.pdf

المؤلفون: Banu, Selina Akhter, Pervin, Mt, Akther, R, Kabir, R, Tasnim, S

المصدر: Bangladesh Journal of Obstetrics & Gynaecology; Vol. 36 No. 1 (2021); 28-32 ; 2408-8404 ; 1018-4287

مصطلحات موضوعية: Ectopic pregnancy, emergency, abdominal pain

Time: Bangladesh

وصف الملف: application/pdf

Relation: https://www.banglajol.info/index.php/BJOG/article/view/65934/44403; https://www.banglajol.info/index.php/BJOG/article/view/65934

الاتاحة: https://www.banglajol.info/index.php/BJOG/article/view/65934