Juvenile Huntington disease: A case study von Nejjari, I, Rhouda, H, Bouhouche, A, Kriouile, Y

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A misleading presentation of juvenile Tay Sachs disease von Zouiri, G., Rhouda, H., Kriouile, Y.

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L’amyotrophie spinale infantile : cause fréquente des hypotonies congénitales au Maroc von Sbiti, A., Ratbi, I., Kriouile, Y., Sefiani, A.

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P166 Le syndrome de régression caudale et diabète gestationnelþ: à propos d’une observation von Imane, Z, Kriouile, Y

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Management of X-linked adrenoleukodystrophy in Morocco: actual situation von Benjelloun, F Z Madani, Kriouile, Y, Cheillan, D, Daoud-Tetouani, H, Chabraoui, L

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Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report von Zerkaoui, M, Ratbi, I, Castellotti, B, Gellera, C, Lyahyai, J, Kriouile, Y, Sefiani, A

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Signes neuropsychologiques chez l’enfant : penser au syndrome de Fahr von Rhouda, H., Gaouzi, A., Kriouile, Y.

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Molecular analysis of ABCD1 gene in moroccan patients with X-linked adrenoleukodystrophy von Madani Benjelloun, F.Z., Kriouile, Y., Cheillan, D., Chabraoui, L.

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Mutations homozygotes dans le gène du récepteur de la thyrotropine (TSH) associée à une dysgénésie thyroïdienne von Touzani, A., Nicolas, D., Gaouzi, A., Kriouile, Y., Chabraoui, L.

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Molecular Defects in Moroccan Patients with Ataxia-Telangiectasia von Jeddane, L., Ailal, F., Dubois-d’Enghien, C., Abidi, O., Benhsaien, I., Kili, A., Chaouki, S., Kriouile, Y., El Hafidi, N., Fadil, H., Abilkassem, R., Rada, N., Bousfiha, A. A., Barakat, A., Stoppa-Lyonnet, D., Bellaoui, H.

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Spinal muscular atrophy: frequent cause of congenital hypotonia in Morocco von Sbiti, A, Ratbi, I, Kriouile, Y, Sefiani, A

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Severe congenital hypothyroidia in homozygous mutation of the thyroid stimulating hormone receptor gene the thyroid peroxidase and tyroglobulin genes in Moroccan children von Touzani, A., Deroux, N., Gaouzi, A., Kriouile, Y., Chabraoui, L.

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Optimizing diagnosis of neuromuscular diseases by high-throughput sequencing: Genetic characterization and classification of sequence variants von Rochdi, K., Cerino, M., Da Silva, N., Delague, V., Nahili, H., Kriouile, Y., Gorokhova, S., Bartoli, M., Saile, R., Barakat, A., Krahn, M.

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Maladie de Huntington juvénile : à propos d’un cas von Nejjari, I., Rhouda, H., Bouhouche, A., Kriouile, Y.

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GNE Myopathy and Duchenne Muscular Dystrophy in Two Moroccans Families von Sifeddine, N., Amalou, G., Charif, M., Nahili, H., Bouzidi, A., Salaheddine, R., Morjane, I., Zouiri, G., Kriouile, Y., Elkhalfi, B., Lenaers, G., Barakat, A.

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PN07 - Genetic investigation of inherited neuropathy in families from Middle East using next generation sequencing von Khan, A.M., Sultan, T., Kriouile, Y., Pipis, M., Vandrovcova, J., Tariq, H., Efthymiou, S., Salpietro, V., Reilly, M.M., Houlden, H.

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Genetic investigation of inherited neuropathy in families from Middle East using next generation sequencing von Khan, A.M., Sultan, T., Kriouile, Y., Pipis, M., Vandrovcova, J., Tariq, H., Efthymiou, S., Salpietro, V., Reilly, M.M., Houlden, H.

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Omenn Syndrome with Mutation in RAG1 Gene von Jaouad, I. Cherkaoui, Ouldim, K., Ali Ou Alla, S., Kriouile, Y., Villa, A., Sefiani, A.

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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination von Efthymiou, S, Salpietro, V, Malintan,N, Poncelet, M, Kriouile, Y, Fortuna, S, De Zorzi, R, Payne, K, Henderson, L.B, Cortese, A, Maddirevula, S, Alhashmi, N, Wiethoff, S, Ryten, M, Botia, J.A, Provitera, V, Schuelke, M, Vandrovcova, J, SYNAPS Study Group, Walsh, L, Torti, E, Iodice, V, Najafi, M, Karimiani, E.G, Maroofian, R, Siquier-Pernet, K, Boddaert, N, De Lonlay, P, Cantagrel, V, Aguennouz, M, El Khorassani, M, Schmidts, M, Alkuraya, F.S, Edvardson, S, Nolano, M, Devaux, J, Houlden, H, Cormand Rifà, Bru

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5PSQ-080 Assessment of dose preparation practices from liquid oral forms by mothers of children hospitalised in our paediatric department von Nchinech, N, Attjioui, H, Aglili, FZ, Kriouile, Y, Alaoui Mdaghri, A, Cherrah, Y, Serragui, S

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