학술논문
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'학술논문'
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Academic Journal
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.; Cazorla, M.; 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.
Hum Mutat
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Fundació Sant Joan de Déu
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. https://doi.org/10.1002/humu.24326
Human Mutation, 43, 3, pp. 403-419
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Fundació Sant Joan de Déu
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,
Human Mutation, 43, 3, pp. 403-419
Academic Journal
Torbati PN; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran; Department of Biology, Mashhad Branch, Islamic Azad University, Mashhad, Iran.; Salehirozveh M; Department of Chemistry, University of Isfahan, Isfahan, Iran.; Toosi MB; Rare Pediatric Neurological Diseases Research Center, Mashhad University of Medical Sciences, Mashhad, Iran; Department of Pediatric Neurology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Ahangari N; Rare Pediatric Neurological Diseases Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Doosti M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Ashrafzadeh F; Faculty of Medicine, Department of Pediatrics, Mashhad University of Medical Sciences, Mashhad, Iran.; Akhondian J; Faculty of Medicine, Department of Pediatrics, Mashhad University of Medical Sciences, Mashhad, Iran.; Hashemi N; Faculty of Medicine, Department of Pediatrics, Mashhad University of Medical Sciences, Mashhad, Iran.; Safi M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Hanieh Sadat Mirzadeh; Shahid Fahmideh Children Hospital, Iran University of Medical Science, Tehran, Iran.; Malek H; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Farsi F; Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Imannezhad S; Rare Pediatric Neurological Diseases Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Karimiani EG; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran. Electronic address: ehsangkarimiani@gmail.com.
Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE
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1998 IEEE International Symposium on Circuits and Systems (ISCAS) Circuits and systems Circuits and Systems (ISCAS), 1998 IEEE International Symposium on. 5:391-394 vol.5 1998
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1998 Midwest Symposium on Circuits and Systems (Cat. No. 98CB36268) Circuits and systems Circuits and Systems, 1998. Proceedings. 1998 Midwest Symposium on. :456-459 1998
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[검색어] Ashrafzadeh, F.
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