Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report von Lamzouri, A, EL Rherbi, A, Ratbi, I, Laarabi, FZ, Chahboune, R, Elalaoui, SC, Hamdaoui, H, Bencheikh, RS, Sefiani, A

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Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene von Boualla, L., Jdioui, W., Soulami, K., Ratbi, I., Sefiani, A.

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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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Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report von Adadi, N, Lahrouchi, N, Bouhouch, R, Fellat, I, Amri, R, Alders, M, Sefiani, A, Bezzina, C, Ratbi, I

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Non-association of Crohn's disease with NOD2 gene variants in Moroccan patients von Hama, I., Ratbi, I., Reggoug, S., Elkerch, F., Kharrasse, G., Errabih, I., Ouazzani, H., Sefiani, A.

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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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PCR249 Quality of Life of Moroccan Children with Rare Diseases: Evidence from Real-World Data von El Hani, M., Ratbi, I., Jdioui, W., Zerkaoui, M., Rifai, L., Cherrah, Y., Thimou Izgua, A., Serragui, S.

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Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation von Ratbi, I., Fejjal, N., Micale, L., Augello, B., Fusco, C., Lyahyai, J., Merla, G., Sefiani, A.

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Two Infants with Beckwith-Wiedemann Syndrome von Ratbi, I, Elalaoui, S, Sefiani, A

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First nonsense variant of MED12 gene in a female with complete Maat-Kievit-Brunner phenotype of Ohdo syndrome: A case report von Amllal, N., Lyahyai, J., Elalaoui, S.C., Sefiani, A., Ratbi, I.

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The mutation 35delG of the gene of the connexin 26 is a frequent cause of autosomal-recessive non-syndromic hearing loss in Morocco von Ratbi, I, Hajji, S, Ouldim, K, Aboussair, N, Feldmann, D, Sefiani, A

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Spinal muscular atrophy carrier frequency and estimated prevalence of the disease in Moroccan newborns von Lyahyai, Jaber, Sbiti, Aziza, Barkat, Amina, Ratbi, Ilham, Sefiani, Abdelaziz

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Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer von Guaoua, Soukaina, Ratbi, Ilham, Lyahyai, Jaber, El Alaoui, Siham Chafai, Laarabi, Fatima-Zahra, Sefiani, Abdelaziz

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Low prevalence of p.G352fsdelG mutation in phenylketonuria patients from Morocco von Lamzouri, Afaf, Ratbi, Ilham, Laarabi, Fatima Z, Barkat, Amina, Sefiani, Abdelaziz

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Moroccan consanguineous family with Becker myotonia and review von Ratbi, Ilham, Elalaoui, Siham Chafai, Escudero, Adela, Kriouile, Yamina, Molano, Jesus, Sefiani, Abdelaziz

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Congenital lower lip pits von Fejjal, N, Ratbi, I, Benabdellah, F

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Fistules congénitales de la lèvre inférieure von Fejjal, N., Ratbi, I., Benabdellah, F.

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Diagnostic moléculaire des mutations récurrentes des gènes XPC et XPA chez les patients marocains atteints de xeroderma pigmentosum von Karrakchou, B., Ratbi, I., Sefiani, A.

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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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Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report von Lamzouri, A, El Rherbi, A, Ratbi, I, Laarabi, F Z, Chahboune, R, Elalaoui, S C, Hamdaoui, H, Bencheikh, R S, Sefiani, A

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