-
1دورية أكاديمية
المؤلفون: Deng, RuizhiAff1, Aff2, Medico-Salsench, Eva, Nikoncuk, Anita, Ramakrishnan, Reshmi, Lanko, Kristina, Kühn, Nikolas A., van der Linde, Herma C., Lor-Zade, Sarah, Albuainain, Fatimah, Shi, Yuwei, Yousefi, SoheilAff1, Aff2, Capo, Ivan, van den Herik, Evita Medici, van Slegtenhorst, Marjon, van Minkelen, Rick, Geeven, GeertAff1, Aff2, Mulder, Monique T., Ruijter, George J. G., Lütjohann, Dieter, Jacobs, Edwin H., Houlden, Henry, Pagnamenta, Alistair T., Metcalfe, KayAff11, Aff12, Jackson, AdamAff11, Aff12, Banka, SiddharthAff11, Aff12, De Simone, Lenika, Schwaede, Abigail, Kuntz, Nancy, Palculict, Timothy Blake, Abbas, Safdar, Umair, MuhammadAff16, Aff17, AlMuhaizea, Mohammed, Colak, Dilek, AlQudairy, Hanan, Alsagob, MaysoonAff20, Aff21, Pereira, Catarina, Trunzo, Roberta, Karageorgou, Vasiliki, Bertoli-Avella, Aida M., Bauer, Peter, Bouman, Arjan, Hoefsloot, Lies H.Aff1, Aff2, van Ham, Tjakko J.Aff1, Aff2, Issa, Mahmoud, Zaki, Maha S., Gleeson, Joseph G., Willemsen, Rob, Kaya, Namik, Arold, Stefan T.Aff3, Aff25, Maroofian, Reza, Sanderson, Leslie E., Barakat, Tahsin StefanAff1, Aff2, Aff26, Aff27, IDs00401023025799_cor52
المصدر: Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease. :1-16
-
2دورية أكاديمية
المؤلفون: Yousefi, Soheil, Deng, Ruizhi, Lanko, Kristina, Salsench, Eva Medico, Nikoncuk, Anita, van der Linde, Herma C., Perenthaler, Elena, van Ham, Tjakko J., Mulugeta, EskeatnafAff2, Barakat, Tahsin StefanAff1
المصدر: Genome Medicine. 13(1)
-
3دورية أكاديمية
المؤلفون: Perenthaler, Elena, Nikoncuk, Anita, Yousefi, Soheil, Berdowski, Woutje M., Alsagob, Maysoon, Capo, Ivan, van der Linde, Herma C., van den Berg, Paul, Jacobs, Edwin H., Putar, Darija, Ghazvini, Mehrnaz, Aronica, EleonoraAff5, Aff6, van IJcken, Wilfred F. J., de Valk, Walter G., Medici-van den Herik, Evita, van Slegtenhorst, Marjon, Brick, Lauren, Kozenko, Mariya, Kohler, Jennefer N., Bernstein, Jonathan A., Monaghan, Kristin G., Begtrup, Amber, Torene, Rebecca, Al Futaisi, Amna, Al Murshedi, Fathiya, Mani, Renjith, Al Azri, Faisal, Kamsteeg, Erik-Jan, Mojarrad, MajidAff17, Aff18, Aff19, Eslahi, AtiehAff17, Aff20, Khazaei, Zaynab, Darmiyan, Fateme Massinaei, Doosti, Mohammad, Karimiani, Ehsan GhayoorAff23, Aff24, Vandrovcova, Jana, Zafar, Faisal, Rana, Nuzhat, Kandaswamy, Krishna K., Hertecant, Jozef, Bauer, Peter, AlMuhaizea, Mohammed A., Salih, Mustafa A., Aldosary, Mazhor, Almass, Rawan, Al-Quait, Laila, Qubbaj, Wafa, Coskun, Serdar, Alahmadi, Khaled O., Hamad, Muddathir H. A., Alwadaee, Salem, Awartani, Khalid, Dababo, Anas M., Almohanna, Futwan, Colak, Dilek, Dehghani, MohammadrezaAff36, Aff37, Mehrjardi, Mohammad Yahya Vahidi, Gunel, Murat, Ercan-Sencicek, A. GulhanAff39, Aff40, Passi, Gouri Rao, Cheema, Huma Arshad, Efthymiou, Stephanie, Houlden, Henry, Bertoli-Avella, Aida M., Brooks, Alice S., Retterer, Kyle, Maroofian, Reza, Kaya, Namik, van Ham, Tjakko J., Barakat, Tahsin StefanAff1
المصدر: Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease. 139(3):415-442
-
4دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
5
المؤلفون: Yousefi, Soheil, Deng, Ruizhi, Lanko, Kristina, Salsench, Eva Medico, Nikoncuk, Anita, van der Linde, Herma C., Perenthaler, Elena, van Ham, Tjakko J., Mulugeta, Eskeatnaf, Barakat, Tahsin Stefan
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2704492df280a65e45d44b519c695676
-
6مورد إلكتروني
المؤلفون: Sanderson, Leslie E., Lanko, Kristina, Alsagob, Maysoon, Almass, Rawan, Al-Ahmadi, Nada, Najafi, Maryam, Al-Muhaizea, Mohammad A., Alzaidan, Hamad, Aldhalaan, Hesham, Perenthaler, Elena, Van Der Linde, Herma C., Nikoncuk, Anita, Kühn, Nikolas A., Antony, Dinu, Owaidah, Tarek Mustafa, Raskin, Salmo, Vieira, Luana Gabriela Dalla Rosa, Mombach, Romulo, Ahangari, Najmeh, Silveira, Tainá Regina Damaceno, Ameziane, Najim, Rolfs, Arndt, Alharbi, Aljohara, Sabbagh, Raghda M., Alahmadi, Khalid, Alawam, Bashayer, Ghebeh, Hazem, Alhargan, Aljouhra, Albader, Anoud A., Binhumaid, Faisal S., Goljan, Ewa, Monies, Dorota, Mustafa, Osama M., Aldosary, Mazhor, Albakheet, Albandary, Alyounes, Banan, Almutairi, Faten, Al-Odaib, Ali, Aksoy, Durdane Bekar, Basak, A. Nazli, Palvadeau, Robin, Trabzuni, Daniah, Rosenfeld, Jill A., Karimiani, Ehsan Ghayoor, Meyer, Brian F., Karakas, Bedri, Al-Mohanna, Futwan, Arold, Stefan T., Colak, Dilek, Maroofian, Reza, Houlden, Henry, Bertoli-Avella, Aida M., Schmidts, Miriam, Barakat, Tahsin Stefan, Van Ham, Tjakko J., Kaya, Namik
المصدر: Sanderson , L E , Lanko , K , Alsagob , M , Almass , R , Al-Ahmadi , N , Najafi , M , Al-Muhaizea , M A , Alzaidan , H , Aldhalaan , H , Perenthaler , E , Van Der Linde , H C , Nikoncuk , A , Kühn , N A , Antony , D , Owaidah , T M , Raskin , S , Vieira , L G D R , Mombach , R , Ahangari , N , Silveira , T R D , Ameziane , N , Rolfs , A , Alharbi , A , Sabbagh , R M , Alahmadi , K , Alawam , B , Ghebeh , H , Alhargan , A , Albader , A A , Binhumaid , F S , Goljan , E , Monies , D , Mustafa , O M , Aldosary , M , Albakheet , A , Alyounes , B , Almutairi , F , Al-Odaib , A , Aksoy , D B , Basak , A N , Palvadeau , R , Trabzuni , D , Rosenfeld , J A , Karimiani , E G , Meyer , B F , Karakas , B , Al-Mohanna , F , Arold , S T , Colak , D , Maroofian , R , Houlden , H , Bertoli-Avella , A M , Schmidts , M , Barakat , T S , Van Ham , T J & Kaya , N 2021 , ' Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking ' , Brain , vol. 144 , no. 3 , pp. 769-780 .
مصطلحات الفهرس: dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being; name=SDG 3 - Good Health and Well-being, article
-
7مورد إلكتروني
المؤلفون: Medico Salsench, Eva, Maroofian, Reza, Deng, Ruizhi, Lanko, Kristina, Nikoncuk, Anita, Pérez, Belén, Sánchez-Lijarcio, Obdulia, Ibáñez-Mico, Salvador, Wojcik, Antonina, Vargas, Marcelo, Abbas Al-Sannaa, Nouriya, Girgis, Marian Y., Silveira, Tainá Regina Damaceno, Bauer, Peter, Schroeder, Audrey, Fong, Chin To, Begtrup, Amber, Babaei, Meisam, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Doosti, Mohammad, Ahangari, Najmeh, Najarzadeh Torbati, Paria, Ghayoor Karimiani, Ehsan, Murphy, David, Cali, Elisa, Kaya, Ibrahim H., Almuhaizea, Mohammad, Colak, Dilek, Cardona-Londoño, Kelly J., Arold, Stefan T., Houlden, Henry, Bertoli-Avella, Aida, Kaya, Namik, Barakat, Tahsin Stefan
المصدر: Medico Salsench , E , Maroofian , R , Deng , R , Lanko , K , Nikoncuk , A , Pérez , B , Sánchez-Lijarcio , O , Ibáñez-Mico , S , Wojcik , A , Vargas , M , Abbas Al-Sannaa , N , Girgis , M Y , Silveira , T R D , Bauer , P , Schroeder , A , Fong , C T , Begtrup , A , Babaei , M , Toosi , M B , Ashrafzadeh , F , Imannezhad , S , Doosti , M , Ahangari , N , Najarzadeh Torbati , P , Ghayoor Karimiani , E , Murphy , D , Cali , E , Kaya , I H , Almuhaizea , M , Colak , D , Cardona-Londoño , K J , Arold , S T , Houlden , H , Bertoli-Avella , A , Kaya , N & Barakat , T S 2021 , ' Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder ' , Brain , vol. 144 , no. 10 , e86 .
مصطلحات الفهرس: article
-
8دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
9دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
10دورية أكاديمية
المؤلفون: Sanderson, Leslie E, Lanko, Kristina, Alsagob, Maysoon, Almass, Rawan, Al-Ahmadi, Nada, Najafi, Maryam, Al-Muhaizea, Mohammad A, Alzaidan, Hamad, AlDhalaan, Hesham, Perenthaler, Elena, Linde, Herma C van der, Nikoncuk, Anita, Kühn, Nikolas A, Antony, Dinu, Owaidah, Tarek Mustafa, Raskin, Salmo, Vieira, Luana Gabriela Dalla Rosa, Mombach, Romulo, Ahangari, Najmeh, Silveira, Tainá Regina Damaceno
المصدر: Brain: A Journal of Neurology; Mar2021, Vol. 144 Issue 3, p769-780, 12p
مصطلحات موضوعية: CEREBELLAR ataxia, CARRIER proteins, PARKINSON'S disease, CHIMERIC proteins, COGNITION disorders