نتائج البحث - Saadi, Abdelkrim

Myélite à anti-MOG et vaccination anti-Covid : association ? À propos d’un cas حسب Bouakaz, Imene Fatima, Kediha, Mohamed Islam, Saadi, Abdelkrim, Hamalit, Mahdia, Pacha, Lamia Ali

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AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability حسب Brechet, Aline, Buchert, Rebecca, Schwenk, Jochen, Boudkkazi, Sami, Zolles, Gerd, Siquier-Pernet, Karine, Schaber, Irene, Bildl, Wolfgang, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick, Reis, Andre, Sticht, Heinrich, Al-Sanna’a, Nouriya, Rolfs, Arndt, Kulik, Akos, Schulte, Uwe, Colleaux, Laurence, Abou Jamra, Rami, Fakler, Bernd

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Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutatio... حسب Lessel, Davor, Ozel, Ayse Bilge, Campbell, Susan E., Saadi, Abdelkrim, Arlt, Martin F., McSweeney, Keisha Melodi, Plaiasu, Vasilica, Szakszon, Katalin, Szőllős, Anna, Rusu, Cristina, Rojas, Armando J., Lopez-Valdez, Jaime, Thiele, Holger, Nürnberg, Peter, Nickerson, Deborah A., Bamshad, Michael J., Li, Jun Z., Kubisch, Christian, Glover, Thomas W., Gordon, Leslie B.

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Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia حسب Bhoj, Elizabeth J., Li, Dong, Harr, Margaret, Edvardson, Shimon, Elpeleg, Orly, Chisholm, Elizabeth, Juusola, Jane, Douglas, Ganka, Guillen Sacoto, Maria J., Siquier-Pernet, Karine, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick, Narravula, Alekhya, Walke, Maria, Horner, Michele B., Day-Salvatore, Debra-Lynn, Jayakar, Parul, Vergano, Samantha A. Schrier, Tarnopolsky, Mark A., Hegde, Madhuri, Colleaux, Laurence, Crino, Peter, Hakonarson, Hakon

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Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia حسب Husain, Ralf A., Grimmel, Mona, Wagner, Matias, Hennings, J. Christopher, Marx, Christian, Feichtinger, René G., Saadi, Abdelkrim, Rostásy, Kevin, Radelfahr, Florentine, Bevot, Andrea, Döbler-Neumann, Marion, Hartmann, Hans, Colleaux, Laurence, Cordts, Isabell, Kobeleva, Xenia, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C., Besse, Arnaud, Ng, Andy Cheuk-Him, Chiang, Diana, Bolduc, Francois, Tafakhori, Abbas, Mane, Shrikant, Ghasemi Firouzabadi, Saghar, Huebner, Antje K., Buchert, Rebecca, Beck-Woedl, Stefanie, Müller, Amelie J., Laugwitz, Lucia, Nägele, Thomas, Wang, Zhao-Qi, Strom, Tim M., Sturm, Marc, Meitinger, Thomas, Klockgether, Thomas, Riess, Olaf, Klopstock, Thomas, Brandl, Ulrich, Hübner, Christian A., Deschauer, Marcus, Mayr, Johannes A., Bonnen, Penelope E., Krägeloh-Mann, Ingeborg, Wortmann, Saskia B., Haack, Tobias B.

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