A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report

by Smaili, W, Elalaoui, S Chafai, Meier, S, Zerkaoui, M, Sefiani, A, Heinimann, K
Published in BMC medical genetics

Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report

by 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

Ankyloblepharon-ectodermal defects-cleft lip-palate syndrome due to a novel missense mutation in the SAM domain of the TP63 gene

by Tajir, M, Lyahyai, J, Guaoua, S, El Alloussi, M, Sefiani, A
Published in Balkan journal of medical genetics

Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report

by Berrani, H, Meskini, T, Zerkaoui, M, Merhni, H, Ettair, S, Sefiani, A, Mouane, N
Published in BMC pediatrics

Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene

by Boualla, L., Jdioui, W., Soulami, K., Ratbi, I., Sefiani, A.
Published in Current research in translational medicine

Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features

by 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

Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus

by 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

Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report

by Zerkaoui, M, Ratbi, I, Castellotti, B, Gellera, C, Lyahyai, J, Kriouile, Y, Sefiani, A
Published in BMC pediatrics

Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report

by 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

CALR gene mutational profile in myeloproliferative neoplasms with non-mutated JAK2 in Moroccan patients: A case series and germline in-frame deletion

by Smaili, W., Doubaj, Y., Laarabi, F.Z., Lyahyai, J., Kerbout, M., Mikdame, M., Sefiani, A.
Published in Current research in translational medicine

CONSANGUINEOUS MARRIAGES IN MOROCCO AND THE CONSEQUENCE FOR THE INCIDENCE OF AUTOSOMAL RECESSIVE DISORDERS

by JAOUAD, I. CHERKAOUI, ELALAOUI, S. CHAFAÏ, SBITI, A., ELKERH, F., BELMAHI, L., SEFIANI, A.
Published in Journal of biosocial science

Non-association of Crohn's disease with NOD2 gene variants in Moroccan patients

by Hama, I., Ratbi, I., Reggoug, S., Elkerch, F., Kharrasse, G., Errabih, I., Ouazzani, H., Sefiani, A.
Published in Gene

Effectiveness of seasonal malaria chemoprevention at scale in west and central Africa: an observational study

by Baba, Ebenezer, Hamade, Prudence, Kivumbi, Harriet, Marasciulo, Maddy, Maxwell, Kolawole, Moroso, Diego, Roca-Feltrer, Arantxa, Sanogo, Adama, Stenstrom Johansson, Joanna, Tibenderana, James, Abdoulaye, Rahila, Coulibaly, Patrice, Hubbard, Eric, Jah, Huja, Lama, Eugene Kaman, Razafindralambo, Lantorina, Van Hulle, Suzanne, Jagoe, George, Tchouatieu, André-Marie, Collins, David, Gilmartin, Colin, Tetteh, Gladys, Djibo, Yacine, Ndiaye, Fara, Kalleh, Momodou, Kandeh, Balla, Audu, Bala, Ntadom, Godwin, Kiba, Alice, Savodogo, Yacouba, Boulotigam, Kodbesse, Sougoudi, Djiddi Ali, Guilavogui, Timothee, Keita, Moussa, Kone, Diakalidia, Jackou, Hadiza, Ouba, Ibrahim, Ouedraogo, Emile, Messan, Halimatou Alassana, Jah, Fatou, Kaira, Markieu Janneh, Sano, Mariama Sire, Traore, Mamadou Chérif, Ngarnaye, Nadine, Elagbaje, Aishatu Yinusa Cassandra, Halleux, Christine, Merle, Corinne, Iessa, Noha, Pal, Shanthi, Sefiani, Houda, Souleymani, Rachida, Laminou, Ibrahim, Doumagoum, Daugla, Kesseley, Hamit, Coldiron, Matt, Grais, Rebecca, Kana, Musa, Ouedraogo, Jean Bosco, Zongo, Issaka, Eloike, Tony, Ogboi, Sonny Johnbull, Achan, Jane, Bojang, Kalifa, Ceesay, Serign, Dicko, Alassane, Djimde, Abdoulaye, Sagara, Issaka, Diallo, Abdoulaye, NdDiaye, Jean Louis, Loua, Kovana Marcel, Beshir, Khalid, Cairns, Matt, Fernandez, Yolanda, Lal, Sham, Mansukhani, Raoul, Muwanguzi, Julian, Scott, Susana, Snell, Paul, Sutherland, Colin, Tuta, Rhosyn, Milligan, Paul
Published in The Lancet (British edition)

Maternal Hypomethylation of KvDMR in a Monozygotic Male Twin Pair Discordant for Beckwith-Wiedemann Syndrome

by Elalaoui, S.C., Garin, I., Sefiani, A., Perez de Nanclares, G.
Published in Molecular syndromology

Inhabitual autosomal recessive form of dentin dysplasia type I in a large consanguineous Moroccan family

by Cherkaoui Jaouad, I, El Alloussi, M, Laarabi, F.Z, Bouhouche, A, Ameziane, R, Sefiani, A
Published in European journal of medical genetics

The first mutations in the MYH gene reported in Moroccan colon cancer patients

by Laarabi, F.Z., Cherkaoui Jaouad, I., Baert-Desurmont, S., Ouldim, K., Ibrahimi, A., Kanouni, N., Frebourg, T., Sefiani, A.
Published in Gene

Spinal muscular atrophy: frequent cause of congenital hypotonia in Morocco

by Sbiti, A, Ratbi, I, Kriouile, Y, Sefiani, A
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie

Prevalence of MYH-associated polyposis related to three recurrent mutations in Morocco

by Laarabi, F. Z., Cherkaoui Jaouad, I., Benazzouz, A., Squalli, D., Sefiani, A.
Published in Annals of human biology

412 Combination of Genomic Technologies and Consanguinity in Order to Identify Pathogenic Variants in Recessive Disorders

by Makrythanasis, P, Nelis, M, Santoni, FA, Guipponi, M, Béna, F, Vanier, A, Duriaux-Sail, G, Gimelli, S, Stathaki, E, Falconnet, E, Temtamy, S, Megarbane, A, Aglan, M, Zaki, M, Fokstuen, S, Bottani, A, Masri, A, Psoni, S, Kitsiou, S, Frissyra, H, Kanavakis, E, All-Allawi, N, Sefiani, A, Al-Hait, S, Elalaoui, S, Jalkh, N, Al-Gazali, L, Al-Jasmi, F, Bouhamed, H Chaabouni, Hamamy, H, Antonarakis, SE
Published in Archives of disease in childhood

Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation

by Ratbi, I., Fejjal, N., Micale, L., Augello, B., Fusco, C., Lyahyai, J., Merla, G., Sefiani, A.
Published in Molecular syndromology