A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report
Smaili, W, Elalaoui, S Chafai, Meier, S, Zerkaoui, M, Sefiani, A, Heinimann, K
Published in BMC medical genetics (03.05.2017)
Published in BMC medical genetics (03.05.2017)
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Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report
Lamzouri, A, EL Rherbi, A, Ratbi, I, Laarabi, FZ, Chahboune, R, Elalaoui, SC, Hamdaoui, H, Bencheikh, RS, Sefiani, A
Published in Balkan journal of medical genetics (01.12.2023)
Published in Balkan journal of medical genetics (01.12.2023)
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Journal Article
Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features
Smaili, W., Elalaoui, S. Chafai, Zrhidri, A., Raymond, L., Egéa, G., Taoudi, M., Mouatassim, S.E.L., Sefiani, A., Lyahyai, J.
Published in European journal of medical genetics (01.07.2020)
Published in European journal of medical genetics (01.07.2020)
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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
Boualla, L., Jdioui, W., Soulami, K., Ratbi, I., Sefiani, A.
Published in Current research in translational medicine (01.01.2016)
Published in Current research in translational medicine (01.01.2016)
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Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus
Bal, E., Baala, L., Cluzeau, C., El Kerch, F., Ouldim, K., Hadj-Rabia, S., Bodemer, C., Munnich, A., Courtois, G., Sefiani, A., Smahi, A.
Published in Human mutation (01.07.2007)
Published in Human mutation (01.07.2007)
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Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report
Zerkaoui, M, Ratbi, I, Castellotti, B, Gellera, C, Lyahyai, J, Kriouile, Y, Sefiani, A
Published in BMC pediatrics (13.11.2015)
Published in BMC pediatrics (13.11.2015)
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Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism
Twigg, S.R.F., Ousager, L.B., Miller, K.A., Zhou, Y., Elalaoui, S.C., Sefiani, A., Bak, G.S, Hove, H., Hansen, L.K., Fagerberg, C.R., Tajir, M., Wilkie, A.O.M.
Published in Clinical genetics (01.09.2016)
Published in Clinical genetics (01.09.2016)
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Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report
Adadi, N, Lahrouchi, N, Bouhouch, R, Fellat, I, Amri, R, Alders, M, Sefiani, A, Bezzina, C, Ratbi, I
Published in Journal of medical case reports (02.04.2017)
Published in Journal of medical case reports (02.04.2017)
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CALR gene mutational profile in myeloproliferative neoplasms with non-mutated JAK2 in Moroccan patients: A case series and germline in-frame deletion
Smaili, W., Doubaj, Y., Laarabi, F.Z., Lyahyai, J., Kerbout, M., Mikdame, M., Sefiani, A.
Published in Current research in translational medicine (01.01.2017)
Published in Current research in translational medicine (01.01.2017)
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Journal Article
Non-association of Crohn's disease with NOD2 gene variants in Moroccan patients
Hama, I., Ratbi, I., Reggoug, S., Elkerch, F., Kharrasse, G., Errabih, I., Ouazzani, H., Sefiani, A.
Published in Gene (10.05.2012)
Published in Gene (10.05.2012)
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Journal Article
Maternal Hypomethylation of KvDMR in a Monozygotic Male Twin Pair Discordant for Beckwith-Wiedemann Syndrome
Elalaoui, S.C., Garin, I., Sefiani, A., Perez de Nanclares, G.
Published in Molecular syndromology (01.01.2014)
Published in Molecular syndromology (01.01.2014)
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Journal Article
Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles
Canals, I, Elalaoui, SC, Pineda, M, Delgadillo, V, Szlago, M, Jaouad, IC, Sefiani, A, Chabás, A, Coll, MJ, Grinberg, D, Vilageliu, L
Published in Clinical genetics (01.10.2011)
Published in Clinical genetics (01.10.2011)
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Journal Article
The first mutations in the MYH gene reported in Moroccan colon cancer patients
Laarabi, F.Z., Cherkaoui Jaouad, I., Baert-Desurmont, S., Ouldim, K., Ibrahimi, A., Kanouni, N., Frebourg, T., Sefiani, A.
Published in Gene (15.03.2012)
Published in Gene (15.03.2012)
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Spinal muscular atrophy: frequent cause of congenital hypotonia in Morocco
Sbiti, A, Ratbi, I, Kriouile, Y, Sefiani, A
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.12.2011)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.12.2011)
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Cytogenetic and epidemiological profiles of Down syndrome in a Moroccan population: a report of 852 cases
Jaouad, I C, Cherkaoui Deqaqi, S, Sbiti, A, Natiq, A, Elkerch, F, Sefiani, A
Published in Singapore medical journal (01.02.2010)
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Published in Singapore medical journal (01.02.2010)
Journal Article
Prevalence of MYH-associated polyposis related to three recurrent mutations in Morocco
Laarabi, F. Z., Cherkaoui Jaouad, I., Benazzouz, A., Squalli, D., Sefiani, A.
Published in Annals of human biology (01.05.2011)
Published in Annals of human biology (01.05.2011)
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