Výsledky vyhledávání - Kraoua, Ichraf

A Case of Progressive Chorea Resulting From GLUT1 Deficiency Autor Kraoua, Ichraf, Benrhouma, Hanene, Vuillaumier‐Barrot, Sandrine, Klaa, Hedia, Youssef‐Turki, Ilhem Ben

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Mirror Movements and Myelomeningocele: Report of A Single Case and Review of Literature Autor RéBAI, Ibtihel, BENRHOUMA, Hanene, KRAOUA, Ichraf, DRISSI, Cyrine, Ben HAMMOUDA, Mohammed, GOUIDER-KHOUJA, Neziha

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Mixed movement disorders revealing an atypical form of creatine deficiency syndrome Autor Nasrallah, Fahmi, Benrhouma, Hanene, Kraoua, Ichraf, Briand, Gilbert, Omar, Souheil, Turki Ben Youssef, Ilhem, Kaabachi, Naziha

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Rasmussen's Encephalitis: A Report of a Tunisian Pediatric Case and Literature Review Autor Klaa, Hedia, Ben Younes, Thouraya, Benrhouma, Hanene, Nagi, Sonia, Rouissi, Aida, Kraoua, Ichraf, Ben Youssef-Turki, Ilhem

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Pediatric Multiple Sclerosis in Tunisia: A Retrospective Study over 11 Years Autor Ben Achour, Nedia, Rebai, Ibtihel, Raddadi, Sarra, Benrhouma, Hanene, Klaa, Hedia, Rouissi, Aida, Kraoua, Ichraf, Ben Youssef Turki, Ilhem

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Valproate adverse effects on creatine metabolism and transport in a patient under drug therapy Autor Nasrallah, Fahmi, Vamecq, Joseph, Kraoua, Ichraf, Joncquel-Chevalier Curt, Marie, Feki, Moncef, Omar, Souheil, Briand, Gilbert, Turki Ben Youssef, Ilhem, Kaabachi, Naziha

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Autoimmune Encephalitis in Tunisia: Report of a Pediatric Cohort Autor Douma, Bissene, Ben Younes, Thouraya, Benrhouma, Hanene, Miladi, Zouhour, Zamali, Imen, Rouissi, Aida, Klaa, Hedia, Kraoua, Ichraf, Ben Ahmed, Melika, Ben Youssef Turki, Ilhem

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Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations Autor Chikhaoui, Asma, Kraoua, Ichraf, Calmels, Nadège, Bouchoucha, Sami, Obringer, Cathy, Zayoud, Khouloud, Montagne, Benjamin, M’rad, Ridha, Abdelhak, Sonia, Laugel, Vincent, Ricchetti, Miria, Turki, Ilhem, Yacoub-Youssef, Houda

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Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B Autor Zayoud, Khouloud, Kraoua, Ichraf, Chikhaoui, Asma, Calmels, Nadège, Bouchoucha, Sami, Obringer, Cathy, Crochemore, Clément, Najjar, Dorra, Zarrouk, Sinda, Miladi, Najoua, Laugel, Vincent, Ricchetti, Miria, Turki, Ilhem, Yacoub-Youssef, Houda

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Novel POLR1C mutation in RNA polymerase III‐related leukodystrophy with severe myoclonus and dystonia Autor Kraoua, Ichraf, Karkar, Adnane, Drissi, Cyrine, Benrhouma, Hanene, Klaa, Hedia, Samaan, Simon, Renaldo, Florence, Elmaleh, Monique, Ben Hamouda, Mohamed, Abdelhak, Sonia, Boespflug‐Tanguy, Odile, Ben Youssef‐Turki, Ilfghem, Dorboz, Imen

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Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome Autor Romani, Marta, Micalizzi, Alessia, Kraoua, Ichraf, Dotti, Maria Teresa, Cavallin, Mara, Sztriha, László, Ruta, Rosario, Mancini, Francesca, Mazza, Tommaso, Castellana, Stefano, Hanene, Benrhouma, Carluccio, Maria Alessandra, Darra, Francesca, Máté, Adrienn, Zimmermann, Alíz, Gouider-Khouja, Neziha, Valente, Enza Maria

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Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes Autor Roosing, Susanne, Romani, Marta, Isrie, Mala, Rosti, Rasim Ozgur, Micalizzi, Alessia, Musaev, Damir, Mazza, Tommaso, Al-gazali, Lihadh, Altunoglu, Umut, Boltshauser, Eugen, D'Arrigo, Stefano, De Keersmaecker, Bart, Kayserili, Hülya, Brandenberger, Sarah, Kraoua, Ichraf, Mark, Paul R, McKanna, Trudy, Van Keirsbilck, Joachim, Moerman, Philippe, Poretti, Andrea, Puri, Ratna, Van Esch, Hilde, Gleeson, Joseph G, Valente, Enza Maria

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Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment Autor Mkaouar, Rahma, Riahi, Zied, Charfeddine, Cherine, Chelly, Imen, Boudabbous, Hela, Dallali, Hamza, Bonnet, Crystel, Hechmi, Meriem, Bekri, Soumeya, Zitouna, Nadia, Zekri, Lotfi, Tounsi, Amel, Kefi, Rym, Marrakchi, Jihene, Messaoud, Olfa, Kraoua, Ichraf, Maalej, Sonia, Turki Ben Youssef, Ilhem, Ben Hmid, Ahlem, Giraudet, Fabrice, Bouchoucha, Sami, Tebib, Neji, Besbes, Ghazi, Petit, Christine, Mrad, Ridha, Abdelhak, Sonia, Trabelsi, Mediha

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MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder Autor Heimer, Gali, Kerätär, Juha M., Riley, Lisa G., Balasubramaniam, Shanti, Eyal, Eran, Pietikäinen, Laura P., Hiltunen, J. Kalervo, Marek-Yagel, Dina, Hamada, Jeffrey, Gregory, Allison, Rogers, Caleb, Hogarth, Penelope, Nance, Martha A., Shalva, Nechama, Veber, Alvit, Tzadok, Michal, Nissenkorn, Andreea, Tonduti, Davide, Renaldo, Florence, Kraoua, Ichraf, Panteghini, Celeste, Valletta, Lorella, Garavaglia, Barbara, Cowley, Mark J., Gayevskiy, Velimir, Roscioli, Tony, Silberstein, Jonathon M., Hoffmann, Chen, Raas-Rothschild, Annick, Tiranti, Valeria, Anikster, Yair, Christodoulou, John, Kastaniotis, Alexander J., Ben-Zeev, Bruria, Hayflick, Susan J.

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