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: Ghosh, Shereen G, Becker, Kerstin, Huang, He, Dixon-Salazar, Tracy, Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K, Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M, Efthymiou, Stephanie, Hanna, Michael G, Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, De Grandis, Elisa, Altmüller, Janine, Weixler, Lisa, Nürnberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B, Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde, van Hagen, Johanna M, Wolf, Nicole I, Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin, Gleeson, Joseph G

المصدر: American Journal of Human Genetics. 103(3)

مصطلحات موضوعية: Biochemistry and Cell Biology, Genetics, Biological Sciences, Epilepsy, Pediatric, Brain Disorders, Neurosciences, Rare Diseases, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Neurological, ADP-ribosylation, ADPRHL2, ARH3, SUDEP, ataxia, epilepsy, neurodegeneration, neuropathy, oxidative stress, poly-ADP ribose, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0p70k5s6

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

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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

المؤلفون: Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, De Grandis, Elisa, Altmüller, Janine, Weixler, Lisa, Nürnberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin, Gleeson, Joseph G.

المصدر: Ghosh, S G, Becker, K, Huang, H, Salazar, T D, Chai, G, Salpietro, V, Al-Gazali, L, Waisfisz, Q, Wang, H, Vaux, K K, Stanley, V, Manole, A, Akpulat, U, Weiss, M M, Efthymiou, S, Hanna, M G, Minetti, C, Striano, P, Pisciotta, L, De Grandis, E, Altmüller, J, Weixler, L, Nürnberg, P, Thiele, H, Yis, U, Okur, T D, Polat, A I, Amiri, N, Doosti, M, Karimani, E G, Toosi, M B, Haddad, G, Karakaya, M, Wirth, B, van Hagen, J M, Wolf, N I, Maroofian, R, Houlden, H, Cirak, S & Gleeson, J G 2021, ' Erratum : Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (The American Journal of Human Genetics (2018) 103(3) (431–439), (S0002929718302374), (10.1016/j.ajhg.2018.07.010)) ', American journal of human genetics, vol. 108, no. 12, pp. 2385 . https://doi.org/10.1016/j.ajhg.2021.11.013

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_____10172::b49c35661b3b029e0aca008a1375e7ff
https://research.vumc.nl/en/publications/fd026b05-2418-46f0-aba8-18fb4b7a3570

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المؤلفون: Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, De Grandis, Elisa, Altmuller, Janine, Weixler, Lisa, Nurnberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin, Gleeson, Joseph G.

مصطلحات الفهرس: ddc:no, doc-type:article, publishedVersion

URL: https://kups.ub.uni-koeln.de/56525/
https://kups.ub.uni-koeln.de/56525
10.1016/j.ajhg.2021.11.013

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المؤلفون: Ghosh, Shereen G., Becker, Kerstin, Huang, He, Dixon-Salazar, Tracy, Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, De Grandis, Elisa, Altmüller, Janine, Nürnberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin, Gleeson, Joseph G.

المساهمون: Human genetics, Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Reproduction & Development (AR&D)

المصدر: American journal of human genetics, 103(5). Cell Press
Ghosh, S G, Becker, K, Huang, H, Dixon-Salazar, T, Chai, G, Salpietro, V, Al-Gazali, L, Waisfisz, Q, Wang, H, Vaux, K K, Stanley, V, Manole, A, Akpulat, U, Weiss, M M, Efthymiou, S, Hanna, M G, Minetti, C, Striano, P, Pisciotta, L, De Grandis, E, Altmüller, J, Nürnberg, P, Thiele, H, Yis, U, Okur, T D, Polat, A I, Amiri, N, Doosti, M, Karimani, E G, Toosi, M B, Haddad, G, Karakaya, M, Wirth, B, van Hagen, J M, Wolf, N I, Maroofian, R, Houlden, H, Cirak, S & Gleeson, J G 2018, ' Erratum : Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (The American Journal of Human Genetics (2018) 103(3) (431–439)(S0002929718302374)(10.1016/j.ajhg.2018.07.010)) ', American journal of human genetics, vol. 103, no. 5 . https://doi.org/10.1016/j.ajhg.2018.10.002

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9700e11006dbfb8aea7e61bf328472e7
https://research.vumc.nl/en/publications/e718214d-4aed-40ed-a42f-8012203943d2