학술논문
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'학술논문'
에서 검색결과 366건 | 목록
1~20
Academic Journal
Aida M Bertoli-Avella; Christian A Ganoza; Mariana Ferreira; Maryam Najafi; Daniel L Polla; Krishna Kandaswamy; Kornelia Tripolszki; Peter Bauer; Jorge Pinto Basto
J Med Genet
Academic Journal
Navin B. Ramakrishna; Umar Bin Mohamad Sahari; Yoshikazu Johmura; Nur Ain Ali; Malak Alghamdi; Peter Bauer; Suliman Khan; Natalia Ordoñez; Mariana Ferreira; Jorge Pinto Basto; Fowzan S. Alkuraya; Eissa Ali Faqeih; Mari Mori; Naif A.M. Almontashiri; Aisha Al Shamsi; Gehad ElGhazali; Hala Abu Subieh; Mode Al Ojaimi; Ayman W. El-Hattab; Said Ahmed Said Al-Kindi; Nadia Alhashmi; Fahad Alhabshan; Abdulaziz Al Saman; Hala Tfayli; Mariam Arabi; Simone Khalifeh; Alan Taylor; Majid Alfadhel; Ruchi Jain; Shruti Sinha; Shruti Shenbagam; Revathy Ramachandran; Umut Altunoğlu; Anju Jacob; Nandu Thalange; Mireille El Bejjani; Arnaud Perrin; Jay W. Shin; Almundher Al-Maawali; Azza Al-Shidhani; Amna Al-Futaisi; Fatma Rabea; Ikram Chekroun; Mohamed A. Almarri; Tomohiko Ohta; Makoto Nakanishi; Alawi Alsheikh-Ali; Fahad R. Ali; Aida M. Bertoli-Avella; Bruno Reversade; Ahmad Abou Tayoun
The American Journal of Human Genetics. 112:1233-1246
Academic Journal
Aida M. Bertoli-Avella; Mandy Radefeldt; Ruslan Al-Ali; Luba M. Pardo; Sabrina Lemke; Anika Leubauer; Daniel L. Polla; Rebecca Hörnicke; Ligia S. Almeida; Krishna Kumar Kandaswamy; Christian Beetz; Jorge Pinto Basto; Peter Bauer
Eur J Hum Genet
Academic Journal
Raffaella De Pace; Carlos A Dominguez Gonzalez; Chad Williamson; Guy Helman; Leslie E Sanderson; Brianna Disanza; Nicole Hsiao-Sanchez; Amy Pizzino; Kayla Muirhead; Joshua L Bonkowsky; Ryan J Taft; Nouriya A Sannaa; Patricia Dias; Ana Sofia Quintas; Mehmet Burak Multu; Hasan Bas; Hasan Ozturk; Majid Mojarrad; Masoome Alerasool; Shahriar Sheikhani; Hayder Kadhim Jabbar; Awatif Hameed Issa; Henry Houlden; Emir Zonic; Tahsin Stefan Barakat; Kornelia Tripolski; Antonio Romito; Eden Teferedegn; Arastoo Vossough; Matthew T Whitehead; Elizabeth Bhoj; Rebecca C Ahrens-Nicklas; Cas Simons; Ernst Wolvetang; Tjakko J van Ham; Aida M Bertoli-Avella; Reza Maroofian; Juan S Bonifacino; Adeline Vanderver
medRxiv
Periodical
Obesity, Fitness & Wellness Week. November 28, 2020, p3204
Academic Journal
Nour Elkhateeb; Mahmoud Y. Issa; Hasnaa M. Elbendary; Walaa Elnaggar; Areef Ramadan; Karima Rafat; Mona Kamel; Sherif F. Abdel‐Ghafar; Fawzia Amer; Hebatallah M. Hassaan; Roberta Trunzo; Catarina Pereira; Mohamed S. Abdel‐Hamid; Felice D'Arco; Peter Bauer; Aida M. Bertoli‐Avella; Marian Girgis; Joseph G. Gleeson; Maha S. Zaki; Laila Selim
Clinical Genetics. 105:510-522
Academic Journal
Natalia Juliá-Palacios; Gerard Muñoz-Pujol; Reza Maroofian; Aida M Bertoli-Avella; Marta Gómez-Chiari; Jordi Muchart-López; Abraham J Paredes-Fuentes; Mar O’Callaghan; Irene S Machado-Casas; Ingrid Cristian; Jennifer Morrison; Angels Garcia-Cazorla; Anna Codina; Mohammad Miryounesi; Emir Zonic; Peter Bauer; Huma Cheema; Muhammad Nadeem Anjum; Nouriya Al-Sannaa; Marwa Abd Elmaksoud; Faroug Ababneh; Sahar Alijanpour; Seyed Hassan Tonekaboni; Afshin Fayazi; Maria Urbaniak; Uxía Barba; Janet Hoenicka; Francesc Palau; Henry Houlden; Juan Darío Ortigoza-Escobar; Antonia Ribes; Carlos Santos-Ocaña; Millie Tyler; Patrick Gaffney; Christopher J Carroll; Frederic Tort; Klaas J Wierenga; Bryn D Webb; Rafael Artuch; Heidy Baide-Mairena; Roser Urreizti
Brain Commun
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Academic Journal
Rauan Kaiyrzhanov; Abolfazl Rad; Sheng‐Jia Lin; Aida M. Bertoli‐Avella; Wouter W. Kallemeijn; Annie Godwin; Maha S. Zaki; Kevin Huang; Tracy Lau; Cassidy Petree; Stéphanie Efthymiou; Ehsan Ghayoor Karimiani; Maja Hempel; Elizabeth A. Normand; Sabine Rudnik‐Schöneborn; Ulrich A. Schatz; Marc P. Baggelaar; Muhammad Ilyas; Tipu Sultan; Javeria Raza Alvi; Manizha Ganieva; Ben Fowler; Ruxandra Aanicai; Gulsen Akay Tayfun; Abdulaziz Al Saman; Abdulrahman Alswaid; Nafise Amiri; Nilufar Asilova; Vorasuk Shotelersuk; Patra Yeetong; Matloob Azam; Meisam Babaei; Gholamreza Bahrami Monajemi; Pouria Mohammadi; Saeed Samie; Selina Banu; Jorge Pinto Basto; Fanny Kortüm; Mislen Bauer; Péter Bauer; Christian Beetz; Masoud Garshasbi; Awatif Hameed Issa; Wafaa Eyaid; Hind Ahmed; Narges Hashemi; Kazem Hassanpour; Isabella Herman; Sherozjon Ibrohimov; Ban A. Abdul–Majeed; Maria Imdad; Maksudjon Isrofilov; Qassem Kaiyal; Suliman Khan; Brian Kirmse; Janet Koster; Charles Marques Lourenço; Tadahiro Mitani; Oana Moldovan; David Murphy; Maryam Najafi; Davut Pehli̇van; María Eugenia Rocha; Vincenzo Salpietro; Miriam Schmidts; Adel Shalata; Mohammad Mahroum; Jawabreh Kassem Talbeya; Robert W. Taylor; Daniel Vázquez; Annalisa Vetro; Hans R. Waterham; Mashaya Zaman; Tina A. Schrader; Wendy K. Chung; Renzo Guerrini; James R. Lupski; Joseph G. Gleeson; Mohnish Suri; Yalda Jamshidi; Kailash P. Bhatia; Barbara Vona; Michael Schrader; Mariasavina Severino; Matthew Guille; Edward W. Tate; Gaurav K. Varshney; Henry Houlden; Reza Maroofian
Brain
Academic Journal
Luba M. Pardo; Ruxandra Aanicai; Emir Zonic; Anna H. Hakonen; Susan Zielske; Peter Bauer; Aida M. Bertoli‐Avella
Clinical Genetics. 105:196-201
Academic Journal
Westenberger, Ana; Verdura, Edgard; Radefeldt, Mandy; Sanderson, Leslie E.; Tripolszki, Kornelia; Marce-grau, Anna; Cazurro-gutierrez, Ana; Nikoncuk, Anita; Herzog, Rebecca; Al-ali, Ruslan; Ferreira, Mariana; Almeida, Ligia S.; Silveira, Taina Regina Damaceno; Khan, Suliman; Maia, Raphael Doyle; Klivenyi, Peter; Salamon, Andras; Baltaci, Volkan; Subasioglu, Asli; Prada-arismendy, Jeanette; Cuturilo, Goran; Loens, Sebastian; Tadic, Vera; Maystadt, Isabelle; Karadurmus, Deniz; Leube, Barbara; De Winter, Jonathan; Monticelli, Alice; De Waele, Liesbeth; Baets, Jonathan; Vinksel, Mateja; Maver, Ales; Tschopp, Lorena; Ziegler, Gabriela; Sanguinetti, Ana; Lohmann, Katja; Barakat, Tahsin Stefan; Bauer, Peter; Perez-duenas, Belen; Bertoli-avella, Aida M.
Academic Journal
Navin B. Ramakrishna; Yoshikazu Johmura; Nur Ain Ali; Umar Bin Mohamad Sahari; Malak Alghamdi; Peter Bauer; Suliman Khan; Natalia Ordoñez; Mariana Ferreira; Jorge Pinto Basto; Fowzan S. Alkuraya; Eissa Ali Faqeih; Mari Mori; Naif A. M. Almontashiri; Aisha Al Shamsi; Gehad ElGhazali; Hala Abu Subieh; Mode Al Ojaimi; Ayman W. El-Hattab; Said Ahmed Said Al-Kindi; Nadia Alhashmi; Fahad Alhabshan; Abdulaziz Al Saman; Hala Tfayli; Mariam Arabi; Simone Khalifeh; Alan Taylor; Majid Alfadhel; Ruchi Jain; Shruti Sinha; Shruti Shenbagam; Revathy Ramachandran; Umut Altunoğlu; Anju Jacob; Nandu Thalange; Jay W. Shin; Almundher Al-Maawali; Azza Al-Shidhani; Amna Al-Futaisi; Fatma Rabea; Ikram Chekroun; Mohamed Al Marri; Tomohiko Ohta; Makoto Nakanishi; Alawi Alsheikh-Ali; Fahad R. Ali; Aida M. Bertoli-Avella; Bruno Reversade; Ahmad Abou Tayoun
Academic Journal
Rösner, Sabine; Pardo, Luba M.; Bertoli-Avella, Aida M.; Skrahina, Volha; Engel, Pierre; Schröder, Sabine; Zielske, Susan; Bonke, Valerie; Kreth, Janett; Westphal, Gina; Reder, Felix; Skobalj, Snezana; Zielke, Susanne; Bogdanovic, Xenia; Grieger, Paula; Rennecke, Jörg; Skripuletz, Thomas; Patten, Monica; Aßmus, Birgit; Hahn, Katrin; Rolfs, Arndt; Bauer, Peter
Journal of Clinical Medicine. October, 2024, Vol. 13 Issue 20
Academic Journal
Natalia Julia-Palacios; Gerard Munoz-Pujol; Reza Maroofian; Aida M. Bertoli-Avella; Marta Gomez-Chiari; Jordi Muchart; Abraham J. Paredes-Fuentes; Maria del Mar O'Callaghan; Irene S. Machado-Casas; Ingrid Cristian; Jennifer Morrison; Angels Garcia-Cazorla; Anna Codina; Mohammad Miryounesi; Emir Zonic; Peter Bauer; Huma Cheema; Muhammad Nadeem Anjum; Nouriya Al-Sannaa; Marwa Elmaksoud; Faroug Ababneh; Sahar Alijanpour; Seyed Hassan Tonekaboni; Afshin Fayazi; Maria Urbaniak; Uxia Barba; Janet Hoenicka; Francesc Palau; Henry Houlden; Juan Dario Ortigoza-Escobar; Antonia Ribes; Carlos Santos-Ocana; Millie Tyler; Patrick Gaffney; Christopher Carroll; Frederic Tort; Klaas J. Wierenga; Bryn Webb; Rafael Artuch; Heidy Baide-Mairena; Roser Urreizti
Academic Journal
Iman Marzouq; Basant Elbanna; Sabine Schröder; Kornelia Tripolszki; Aida M. Bertoli-Avella; Aml Mahfouz
Archives of Pediatric Gastroenterology, Hepatology, and Nutrition. 2:25-31
Academic Journal
Ruizhi Deng; Eva Medico-Salsench; Anita Nikoncuk; Reshmi Ramakrishnan; Kristina Lanko; Nikolas A. Kühn; Herma C. van der Linde; Sarah Lor-Zade; Fatimah Albuainain; Yuwei Shi; Soheil Yousefi; Ivan Capo; Evita Medici van den Herik; Marjon van Slegtenhorst; Rick van Minkelen; Geert Geeven; Monique T. Mulder; George J. G. Ruijter; Dieter Lütjohann; Edwin H. Jacobs; Henry Houlden; Alistair T. Pagnamenta; Kay Metcalfe; Adam Jackson; Siddharth Banka; Lenika De Simone; Abigail Schwaede; Nancy Kuntz; Timothy Blake Palculict; Safdar Abbas; Muhammad Umair; Mohammed AlMuhaizea; Dilek Colak; Hanan AlQudairy; Maysoon Alsagob; Catarina Pereira; Roberta Trunzo; Vasiliki Karageorgou; Aida M. Bertoli-Avella; Peter Bauer; Arjan Bouman; Lies H. Hoefsloot; Tjakko J. van Ham; Mahmoud Issa; Maha S. Zaki; Joseph G. Gleeson; Rob Willemsen; Namik Kaya; Stefan T. Arold; Reza Maroofian; Leslie E. Sanderson; Tahsin Stefan Barakat
Acta Neuropathol
AMFR consortium, Deng, R, Medico-Salsench, E, Nikoncuk, A, Ramakrishnan, R, Lanko, K, Kühn, N A, van der Linde, H C, Lor-Zade, S, Albuainain, F, Shi, Y, Yousefi, S, Capo, I, van den Herik, EM , van Slegtenhorst, M , van Minkelen, R, Geeven, G, Mulder, M T, Ruijter, G J G, Lütjohann, D, Jacobs, E H, Houlden, H, Pagnamenta, A T, Metcalfe, K, Jackson, A, Banka, S, De Simone, L, Schwaede, A, Kuntz, N, Palculict, T B, Abbas, S, Umair, M , AlMuhaizea, M , Colak, D, AlQudairy, H, Alsagob, M , Pereira, C, Trunzo, R, Karageorgou, V, Bertoli -Avella , A M , Bauer, P, Bouman, A, Hoefsloot, L H, van Ham, T J, Issa, M , Zaki, M S, Gleeson, J G, Willemsen, R, Kaya, N, Arold, S T & Maroofian, R 2023, 'AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model', Acta Neuropathologica, vol. 146, no. 2, pp. 353-368. https://doi.org/10.1007/s00401-023-02579-9, https://doi.org/10.1007/s00401-023-02579-9
Acta Neuropathol.
AMFR consortium, Deng, R, Medico-Salsench, E, Nikoncuk, A, Ramakrishnan, R, Lanko, K, Kühn, N A, van der Linde, H C, Lor-Zade, S, Albuainain, F, Shi, Y, Yousefi, S, Capo, I, van den Herik, E
Acta Neuropathol.
Academic Journal
Zonic, Emir ; Ferreira, Mariana ; Pardo, Luba M. ; Martini, Javier ; Rocha, Maria Eugenia ; Aanicai, Ruxandra ; Ordonez-Herrera, Natalia ; Saravanakumar, Deepa ; Almeida, Ligia S. ; Fernandes, Inês C. ; Gulati, Nishtha ; Mannepalli, Sumanth ; Hercegovac, Amela ; Al-Ali, Ruslan ; Pereira, Catarina ; Paknia, Omid ; Hladnik, Uros ; Bauer, Peter ; Pinto Basto, Jorge ; Bertoli-Avella, Aida M.
In Genetics in Medicine Open 2023 1(1)
Academic Journal
Smits, Daphne J.; Schot, Rachel; Popescu, Cristiana A.; Dias, Kerith-Rae; Ades, Lesley; Briere, Lauren C.; Sweetser, David A.; Kushima, Itaru; Aleksic, Branko; Khan, Suliman; Karageorgou, Vasiliki; Ordonez, Natalia; Sleutels, Frank J. G. T.; van der Kaay, Daniëlle C. M.; Van Mol, Christine; Van Esch, Hilde; Bertoli-Avella, Aida M.; Roscioli, Tony; Mancini, Grazia M. S.
Human Genetics. 142(7):949-964
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[검색어] Bertoli-Avella, Aida M.
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