المؤلفون: Banks, Emily, Francis, Vincent, Lin, Sheng-Jia, Kharfallah, Fares, Fonov, Vladimir, Lévesque, Maxime, Han, Chanshuai, Kulasekaran, Gopinath, Tuznik, Marius, Bayati, Armin, Al-Khater, Reem, Alkuraya, Fowzan S., Argyriou, Loukas, Babaei, Meisam, Bahlo, Melanie, Bakhshoodeh, Behnoosh, Barr, Eileen, Bartik, Lauren^{Aff10, Aff11}, Bassiony, Mahmoud, Bertrand, Miriam, Braun, Dominique, Buchert, Rebecca, Budetta, Mauro, Cadieux-Dion, Maxime, Calame, Daniel G.^{Aff17, Aff18, Aff19}, Cope, Heidi, Cushing, Donna, Efthymiou, Stephanie, Elmaksoud, Marwa Abd, El Said, Huda G., Froukh, Tawfiq, Gill, Harinder K., Gleeson, Joseph G.^{Aff26, Aff27}, Gogoll, Laura, Goh, Elaine S.-Y., Gowda, Vykuntaraju K., Haack, Tobias B., Hashem, Mais O., Hauser, Stefan^{Aff29, Aff30}, Hoffman, Trevor L., Hogue, Jacob S., Hosokawa, Akimoto, Houlden, Henry, Huang, Kevin, Huynh, Stephanie, Karimiani, Ehsan G.^{Aff34, Aff35}, Kaulfuß, Silke, Korenke, G. Christoph, Kritzer, Amy, Lee, Hane, Lupski, James R.^{Aff17, Aff18, Aff19, Aff39}, Marco, Elysa J., McWalter, Kirsty, Minassian, Arakel, Minassian, Berge A., Murphy, David, Neira-Fresneda, Juanita, Northrup, Hope, Nyaga, Denis M., Oehl-Jaschkowitz, Barbara, Osmond, Matthew, Person, Richard, Pehlivan, Davut^{Aff17, Aff18, Aff19}, Petree, Cassidy, Sadleir, Lynette G., Saunders, Carol^{Aff10, Aff16, Aff48}, Schoels, Ludger^{Aff29, Aff30}, Shashi, Vandana, Spillmann, Rebecca C., Srinivasan, Varunvenkat M., Torbati, Paria N., Tos, Tulay, Zaki, Maha S., Zhou, Dihong^{Aff10, Aff11}, Zweier, Christiane, Trempe, Jean-François, Durcan, Thomas M., Gan-Or, Ziv^{Aff1, Aff52}, Avoli, Massimo, Alves, Cesar, Varshney, Gaurav K., Maroofian, Reza, Rudko, David A.^{Aff1, Aff54, Aff55}, McPherson, Peter S.^{Aff1, IDs4146702451310z_cor85}

المصدر: Nature Communications. 15(1)

المؤلفون: Pagnamenta, Alistair T., Diaz-Gonzalez, Francisca, Banos-Pinero, Benito, Ferla, Matteo P., Toosi, Mehran B., Calder, Alistair D., Karimiani, Ehsan G., Doosti, Mohammad, Wainwright, Andrew, Wordsworth, Paul, Bailey, Kathryn, Ejeskär, Katarina, 1969, Lester, Tracy, Maroofian, Reza, Heath, Karen E., Tajsharghi, Homa, Shears, Deborah, Taylor, Jenny C.

المصدر: Journal of Medical Genetics. 59(10):947-950

مصطلحات موضوعية: Genetics (clinical), Genetics, Translationell medicin TRIM, Translational Medicine TRIM

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-20732
https://doi.org/10.1136/jmedgenet-2021-108027
https://his.diva-portal.org/smash/get/diva2:1615652/FULLTEXT02.pdf

المؤلفون: Koopmann, Tamara T., Jamshidi, Yalda^{Aff2, IDs41431022012049_cor2}, Naghibi-Sistani, Mohammad, van der Klift, Heleen M., Birjandi, Hassan, Al-Hassnan, Zuhair, Alwadai, Abdullah, Zifarelli, Giovanni, Karimiani, Ehsan G.^{Aff2, Aff7}, Sedighzadeh, Sahar^{Aff8, Aff9}, Bahreini, Amir^{Aff9, Aff10}, Nouri, Nayereh^{Aff9, Aff11}, Peter, Merlene, Watanabe, Kyoko, van Duyvenvoorde, Hermine A., Ruivenkamp, Claudia A. L., Teunissen, Aalbertine K. K., Ten Harkel, Arend D. J., van Duinen, Sjoerd G., Haak, Monique C., Prada, Carlos E.^{Aff12, Aff17}, Santen, Gijs W. E.^{Aff1, IDs41431022012049_cor22}, Maroofian, Reza^{Aff18, IDs41431022012049_cor23}

المصدر: European Journal of Human Genetics. 31(1):97-104

المؤلفون: Langhammer, Franziska, Maroofian, Reza, Badar, Rueda, Gregor, Anne, Rochman, Michelle, Ratliff, Jeffrey B., Koopmans, Marije, Herget, Theresia, Hempel, Maja, Kortüm, Fanny, Heron, Delphine, Mignot, Cyril, Keren, Boris, Brooks, Susan, Botti, Christina, Ben-Zeev, Bruria, Argilli, Emanuela, Sherr, Elliot H., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Bakhtiari, Somayeh, Kruer, Michael C., Salih, Mustafa A., Kuechler, Alma, Muller, Eric A., Blocker, Karli, Kuismin, Outi, Park, Kristen L., Kochhar, Aaina, Brown, Kathleen, Ramanathan, Subhadra, Clark, Robin D., Elgizouli, Magdeldin, Melikishvili, Gia, Tabatadze, Nazhi, Stark, Zornitza, Mirzaa, Ghayda M., Ong, Jinfon, Grasshoff, Ute, Bevot, Andrea, von Wintzingerode, Lydia, Jamra, Rami A., Hennig, Yvonne, Goldenberg, Paula, Al Alam, Chadi, Charif, Majida, Boulouiz, Redouane, Bellaoui, Mohammed, Amrani, Rim, Al Mutairi, Fuad, Tamim, Abdullah M., Abdulwahab, Firdous, Alkuraya, Fowzan S., Khouj, Ebtissal M., Alvi, Javeria R., Sultan, Tipu, Hashemi, Narges, Karimiani, Ehsan G., Ashrafzadeh, Farah, Imannezhad, Shima, Efthymiou, Stephanie, Houlden, Henry, Sticht, Heinrich, Zweier, Christiane

المصدر: In Genetics in Medicine August 2023 25(8)

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المؤلفون: Wagner, Matias^{Aff1, Aff2, Aff3}, Lévy, Jonathan, Jung-Klawitter, Sabine, Bakhtiari, Somayeh^{Aff6, Aff7}, Monteiro, Fabiola, Maroofian, Reza, Bierhals, Tatjana, Hempel, Maja, Elmaleh-Bergès, Monique, Kitajima, Joao P., Kim, Chong A., Salomao, Julia G., Amor, David J.^{Aff13, Aff14}, Cooper, Monica S.^{Aff13, Aff14}, Perrin, Laurence, Pipiras, Eva, Neu, Axel, Doosti, Mohammad, Karimiani, Ehsan G., Toosi, Mehran B., Houlden, Henry, Jin, Sheng Chih, Si, Yue C., Rodan, Lance H., Venselaar, Hanka, Kruer, Michael C.^{Aff6, Aff7}, Kok, Fernando, Hoffmann, Georg F., Strom, Tim M., Wortmann, Saskia B.^{Aff1, Aff2, Aff24}, Tabet, Anne-Claude^{Aff4, Aff25}, Opladen, Thomas^Aff5

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(6):1061-1068

المؤلفون: 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, Zaki, Maha S., 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, Salpietro, Vincenzo, Maroofian, Reza, 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, 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

المصدر: In The American Journal of Human Genetics 4 January 2024 111(1):200-210

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المؤلفون: Scala, Marcello, Wortmann, Saskia B., Kaya, Namik, Stellingwerff, Menno D., Pistorio, Angela, Glamuzina, Emma, van Karnebeek, Clara D., Skrypnyk, Cristina, Iwanicka-Pronicka, Katarzyna, Piekutowska-Abramczuk, Dorota, Ciara, Elżbieta, Tort, Frederic, Sheidley, Beth, Poduri, Annapurna, Jayakar, Parul, Jayakar, Anuj, Upadia, Jariya, Walano, Nicolette, Haack, Tobias B., Prokisch, Holger, Aldhalaan, Hesham, Karimiani, Ehsan G., Yildiz, Yilmaz, Ceylan, Ahmet C., Santiago-Sim, Teresa, Dameron, Amy, Yang, Hui, Toosi, Mehran B., Ashrafzadeh, Farah, Akhondian, Javad, Imannezhad, Shima, Mirzadeh, Hanieh S., Maqbool, Shazia, Farid, Aisha, Al-Muhaizea, Mohamed A., Alshwameen, Meznah O., Aldowsari, Lama, Alsagob, Maysoon, Alyousef, Ashwaq, AlMass, Rawan, AlHargan, Aljouhra, Alwadei, Ali H., AlRasheed, Maha M., Colak, Dilek, Alqudairy, Hanan, Khan, Sameena, Lines, Matthew A., García Cazorla, M. Ángeles, Ribes, Antonia, Morava, Eva, Bibi, Farah, Haider, Shahzad, Ferla, Matteo P., Taylor, Jenny C., Alsaif, Hessa S., Firdous, Abdulwahab, Hashem, Mais, Shashkin, Chingiz, Koneev, Kairgali, Kaiyrzhanov, Rauan, Efthymiou, Stephanie, Genomics, Queen Square, Schmitt-Mechelke, Thomas, Ziegler, Andreas, Issa, Mahmoud Y., Elbendary, Hasnaa M., Striano, Pasquale, Alkuraya, Fowzan S., Zaki, Maha S., Gleeson, Joseph G., Barakat, Tahsin Stefan, Bierau, Jorgen, van der Knaap, Marjo S., Maroofian, Reza, Houlden, Henry

المصدر: Scala , M , Wortmann , S B , Kaya , N , Stellingwerff , M D , Pistorio , A , Glamuzina , E , van Karnebeek , C D , Skrypnyk , C , Iwanicka-Pronicka , K , Piekutowska-Abramczuk , D , Ciara , E , Tort , F , Sheidley , B , Poduri , A , Jayakar , P , Jayakar , A , Upadia , J , Walano , N , Haack , T B , Prokisch , H , Aldhalaan , H , Karimiani , E G , Yildiz , Y , Ceylan , A C , Santiago-Sim , T , Dameron , A , Yang , H , Toosi , M B , Ashrafzadeh , F , Akhondian , J , Imannezhad , S , Mirzadeh , H S , Maqbool , S , Farid , A , Al-Muhaizea , M A , Alshwameen , M O , Aldowsari , L , Alsagob , M , Alyousef , A , AlMass , R , AlHargan , A , Alwadei , A H , AlRasheed , M M , Colak , D , Alqudairy , H , Khan , S , Lines , M A , García Cazorla , M Á , Ribes , A , Morava , E , Bibi , F , Haider , S , Ferla , M P , Taylor , J C , Alsaif , H S , Firdous , A , Hashem , M , Shashkin , C , Koneev , K , Kaiyrzhanov , R , Efthymiou , S , Genomics , Q S , Schmitt-Mechelke , T , Ziegler , A , Issa , M Y , Elbendary , H M , Striano , P , Alkuraya , F S , Zaki , M S , Gleeson , J G , Barakat , T S , Bierau , J , van der Knaap , M S , Maroofian , R & Houlden , H 2022 , ' Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency ' , Human Mutation , vol. 43 , no. 3 , pp. 403-419 .

مصطلحات الفهرس: article

URL: https://pure.eur.nl/en/publications/8f44f678-de01-492d-b764-468bcda6b382