Zobrazeno 1 - 10
of 57
pro vyhledávání: '"Elalaoui, SC"'
Autor:
Lamzouri A, EL Rherbi A, Ratbi I, Laarabi FZ, Chahboune R, Elalaoui SC, Hamdaoui H, Bencheikh RS, Sefiani A
Publikováno v:
Balkan Journal of Medical Genetics, Vol 26, Iss 2, Pp 69-72 (2024)
Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development characterized by numerous developmental anomalies that are restricted to the head and neck. Most TCS cases are inherited in an autosomal dominant manner. The di
Externí odkaz:
https://doaj.org/article/eea790235a3d499089596940d6521207
Autor:
Lamzouri, A, EL Rherbi, A, Ratbi, I, Laarabi, FZ, Chahboune, R, Elalaoui, SC, Hamdaoui, H, Bencheikh, RS, Sefiani, A
Publikováno v:
Balkan Journal of Medical Genetics; Dec2023, Vol. 26 Issue 2, p69-72, 4p
Autor:
Twigg, SRF, Ousager, LO, Miller, KA, Zhou, Y, Elalaoui, SC, Sefiani, A, Bak, GC, Hove, H, Hansen, LK, Fagerberg, CR, Tajir, M, Wilkie, AOM
Publikováno v:
Twigg, S R F, Ousager, L B, Miller, K A, Zhou, Y, Elalaoui, S C, Sefiani, A, Bak, G S, Hove, H, Kjærsgaard Hansen, L, Fagerberg, C R, Tajir, M & Wilkie, A O M 2016, ' Acromelic frontonasal dysostosis and ZSWIM6 mutation : phenotypic spectrum and mosaicism ', Clinical Genetics, vol. 90, no. 3, pp. 270-275 . https://doi.org/10.1111/cge.12721
Acromelic frontonasal dysostosis (AFND) is a distinctive and rare frontonasal malformation that presents in combination with brain and limb abnormalities. A single recurrent heterozygous missense substitution in ZSWIM6, encoding a protein of unknown
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0e115c64ceb5604ddbc07e0398227e65
https://findresearcher.sdu.dk:8443/ws/files/121727930/Twigg_et_al_2016_Clinical_Genetics.pdf
https://findresearcher.sdu.dk:8443/ws/files/121727930/Twigg_et_al_2016_Clinical_Genetics.pdf
Autor:
Canals, I, Elalaoui, SC, Pineda, M, Delgadillo, V, Szlago, M, Jaouad, IC, Sefiani, A, Chabás, A, Coll, MJ, Grinberg, D, Vilageliu, L
Publikováno v:
Clinical Genetics; Oct2011, Vol. 80 Issue 4, p367-374, 8p, 3 Diagrams, 3 Charts, 1 Graph
Autor:
Amllal N; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.; Department of Medical Genetics, National Institute of Health, Rabat, Morocco., Lyahyai J; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.; Department of Medical Genetics, National Institute of Health, Rabat, Morocco., Elalaoui SC; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.; Department of Medical Genetics, National Institute of Health, Rabat, Morocco., El Kadiri Y; Department of Medical Genetics, National Institute of Health, Rabat, Morocco., Sefiani A; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.; Department of Medical Genetics, National Institute of Health, Rabat, Morocco.
Publikováno v:
Molecular syndromology [Mol Syndromol] 2024 Oct; Vol. 15 (5), pp. 421-426. Date of Electronic Publication: 2024 Apr 02.
Autor:
Benyahya N; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genopath Centre, Faculty of Medicine and Pharmacy of Rabat, University Mohammed V, Rabat, Morocco.; Department of Medical Genetics, National Institute of Hygiene, Rabat, Morocco., Amllal N; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genopath Centre, Faculty of Medicine and Pharmacy of Rabat, University Mohammed V, Rabat, Morocco.; Department of Medical Genetics, National Institute of Hygiene, Rabat, Morocco., Elalaoui SC; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genopath Centre, Faculty of Medicine and Pharmacy of Rabat, University Mohammed V, Rabat, Morocco.; Department of Medical Genetics, National Institute of Hygiene, Rabat, Morocco., El Alloussi M; College of Health Sciences, International Faculty of Dental Medicine, BioMed Unit, International University of Rabat, Rabat, Morocco., Sefiani A; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genopath Centre, Faculty of Medicine and Pharmacy of Rabat, University Mohammed V, Rabat, Morocco.; Department of Medical Genetics, National Institute of Hygiene, Rabat, Morocco., Lyahyai J; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genopath Centre, Faculty of Medicine and Pharmacy of Rabat, University Mohammed V, Rabat, Morocco.
Publikováno v:
International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience [Int J Dev Neurosci] 2024 Sep 19. Date of Electronic Publication: 2024 Sep 19.
Autor:
Amllal N; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genopath Centre, Faculty of Medicine and Pharmacy of Rabat, University Mohammed V of Rabat, Rabat, Morocco. nada.amllal01@gmail.com.; Department of Medical Genetics, National Institute of Health, Rabat, Morocco. nada.amllal01@gmail.com., Zerkaoui M; Medical Genetics Unit, Faculty of Medicine and Pharmacy of Rabat, Children's Hospital, Ibn Sina CHU, University Mohammed V, Rabat, Morocco., Jdioui W; Medical Genetics Unit, Faculty of Medicine and Pharmacy of Rabat, Children's Hospital, Ibn Sina CHU, University Mohammed V, Rabat, Morocco., Elalaoui SC; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genopath Centre, Faculty of Medicine and Pharmacy of Rabat, University Mohammed V of Rabat, Rabat, Morocco.; Medical Genetics Unit, Faculty of Medicine and Pharmacy of Rabat, Children's Hospital, Ibn Sina CHU, University Mohammed V, Rabat, Morocco., Sefiani A; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genopath Centre, Faculty of Medicine and Pharmacy of Rabat, University Mohammed V of Rabat, Rabat, Morocco.; Department of Medical Genetics, National Institute of Health, Rabat, Morocco., Lyahyai J; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genopath Centre, Faculty of Medicine and Pharmacy of Rabat, University Mohammed V of Rabat, Rabat, Morocco.
Publikováno v:
Molecular biology reports [Mol Biol Rep] 2024 Aug 03; Vol. 51 (1), pp. 885. Date of Electronic Publication: 2024 Aug 03.
Autor:
Amllal N; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.; Department of Medical Genetics, National Institute of Health, Rabat, Morocco., Elalaoui SC; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.; Medical Genetics Unit, CHU Ibn Sina, Rabat, Morocco., Zerkaoui M; Medical Genetics Unit, CHU Ibn Sina, Rabat, Morocco., Chiguer A; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.; Department of Medical Genetics, National Institute of Health, Rabat, Morocco., Afif L; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.; Department of Medical Genetics, National Institute of Health, Rabat, Morocco., Izgua AT; Center of Consultations and External Explorations, HER, CHU Ibn Sina, Rabat, Morocco., Sefiani A; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.; Department of Medical Genetics, National Institute of Health, Rabat, Morocco., Lyahyai J; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.
Publikováno v:
Annals of laboratory medicine [Ann Lab Med] 2024 Jan 01; Vol. 44 (1), pp. 110-117. Date of Electronic Publication: 2023 Sep 04.
Autor:
El Amrani Z; RABAT Research team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco., Elalaoui SC; RABAT Research team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco., Jdioui W; médicale, Centre des consultations et des explorations externes, Hopital d'enfants, CHU Ibn SinaConsultation de génétique, Rabat, Marocco., Sbiti A; RABAT Research team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco., Ratbi I; RABAT Research team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco., Liehr T; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany., Sefiani A; RABAT Research team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco., Natiq A; RABAT Research team in genomics and molecular epidemiology of genetic diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.
Publikováno v:
Ophthalmic genetics [Ophthalmic Genet] 2022 Oct; Vol. 43 (5), pp. 689-692. Date of Electronic Publication: 2022 Jun 06.
Autor:
Elalaoui SC; Génomique et Epidémiologie Moléculaire des Maladies Génétiques (G2MG), Centre GENOPATH, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco. sihamgen@yahoo.fr.; Département de Génétique Médicale, Institut National d'Hygiène, 27 Avenue Ibn Batouta, B.P 769, 11400, Rabat, Morocco. sihamgen@yahoo.fr., Laarabi FZ; Faculté des sciences, Université Chouaib Doukkali, El Jadida, Morocco., Afif L; Génomique et Epidémiologie Moléculaire des Maladies Génétiques (G2MG), Centre GENOPATH, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.; Département de Génétique Médicale, Institut National d'Hygiène, 27 Avenue Ibn Batouta, B.P 769, 11400, Rabat, Morocco., Lyahyai J; Génomique et Epidémiologie Moléculaire des Maladies Génétiques (G2MG), Centre GENOPATH, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.; Département de Génétique Médicale, Institut National d'Hygiène, 27 Avenue Ibn Batouta, B.P 769, 11400, Rabat, Morocco., Ratbi I; Génomique et Epidémiologie Moléculaire des Maladies Génétiques (G2MG), Centre GENOPATH, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.; Département de Génétique Médicale, Institut National d'Hygiène, 27 Avenue Ibn Batouta, B.P 769, 11400, Rabat, Morocco., Jaouad IC; Département de Génétique Médicale, Institut National d'Hygiène, 27 Avenue Ibn Batouta, B.P 769, 11400, Rabat, Morocco., Doubaj Y; Département de Génétique Médicale, Institut National d'Hygiène, 27 Avenue Ibn Batouta, B.P 769, 11400, Rabat, Morocco., Sahli M; Département de Génétique Médicale, Institut National d'Hygiène, 27 Avenue Ibn Batouta, B.P 769, 11400, Rabat, Morocco., Ouhenach M; Département de Génétique Médicale, Institut National d'Hygiène, 27 Avenue Ibn Batouta, B.P 769, 11400, Rabat, Morocco., Sefiani A; Génomique et Epidémiologie Moléculaire des Maladies Génétiques (G2MG), Centre GENOPATH, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.; Département de Génétique Médicale, Institut National d'Hygiène, 27 Avenue Ibn Batouta, B.P 769, 11400, Rabat, Morocco.
Publikováno v:
Breast cancer research and treatment [Breast Cancer Res Treat] 2022 Jul; Vol. 194 (1), pp. 187-198. Date of Electronic Publication: 2022 May 17.