Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Siham Chafai Elalaoui"'
Autor:
Youssef El Kadiri, Ilham Ratbi, Mouna Ouhenach, Siham Chafai Elalaoui, Imane Cherkaoui Jaouad, Abdelali Zrhidri, Maryem Sahli, Nazha Birouk, Abdelaziz Sefiani, Jaber Lyahyai
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-17 (2023)
Abstract Background Congenital muscular dystrophies (CMD) and congenital myopathies (CM) are clinically and genetically heterogeneous groups of neuromuscular disorders resulting in prenatal or early-onset hypotonia, muscle weakness, myogenic pattern,
Externí odkaz:
https://doaj.org/article/0aac02b2513d4411aa5311dea64c94a8
Autor:
Chiara Mameli, Giulia Zichichi, Nasim Mahmood, Siham Chafai Elalaoui, Adnan Mirza, Poonam Dharmaraj, Marco Burrone, Elisa Cattaneo, Jayesh Sheth, Ajit Gandhi, Gurpreet Singh Kochar, Fowzan Sami Alkuraya, Madhulika Kabra, Giuseppe Mercurio, Gianvincenzo Zuccotti
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe midface hypoplasia,
Externí odkaz:
https://doaj.org/article/31e8b21d16564a75b2b20ef07336fb0c
Autor:
Siham Chafai Elalaoui, Nawfal Fejjal3, Yun Li, Holger Thiele, Janine Altmüller, Soukaina Guaoua, Peter Nürnberg, Bernd Wollnik, Abdelaziz Sefiani, Ilham Ratbi
Publikováno v:
The Pan African Medical Journal, Vol 39, Iss 21 (2021)
Split-hand foot malformation (SHFM) is a clinically heterogeneous congenital limb defect affecting predominantly the central rays of hands and/or feet. The clinical expression varies in severity between patients as well between the limbs in the same
Externí odkaz:
https://doaj.org/article/627971715e194e8eb539a7c87d852bb0
Autor:
Fatima-Zahra Laarabi, Ilham Ratbi, Siham Chafai Elalaoui, Loubna Mezzouar, Yassamine Doubaj, Laila Bouguenouch, Karim Ouldim, Noureddine Benjaafar, Abdelaziz Sefiani
Publikováno v:
BMC Research Notes, Vol 10, Iss 1, Pp 1-5 (2017)
Abstract Background To date, a limited number of BRCA1/2 germline mutations have been reported in hereditary breast and/or ovarian cancer in the Moroccan population. Less than 20 different mutations of these two genes have been identified in Moroccan
Externí odkaz:
https://doaj.org/article/7a13207686c44ca9826f149c3399b289
Autor:
Ilham Ratbi, Siham Chafai Elalaoui, Adela Escudero, Yamina Kriouile, Jesus Molano, Abdelaziz Sefiani
Publikováno v:
Annals of Indian Academy of Neurology, Vol 14, Iss 4, Pp 307-309 (2011)
Myotonia congenita is a genetic muscle disorder characterized by clinical and electrical myotonia, muscle hypertrophy, and stiffness. It is inherited as either autosomal-dominant or -recessive, known as Thomsen and Becker diseases, respectively. Thes
Externí odkaz:
https://doaj.org/article/2c03dd69cb4946a4a6d63b705dedfeda
Autor:
Mariam Tajir, Patricia Fergelot, Gwenaelle Lancelot, Benoit Arveiler, Siham Chafai Elalaoui, Didier Lacombe, Abdelaziz Sefiani
Publikováno v:
The Pan African Medical Journal, Vol 12, Iss 64 (2012)
Le syndrome de Costello appelé également syndrome Facio-cutanéo-squelettique est une anomalie rare du développement d'origine génétique de transmission autosomique dominante. Sa prévalence est inconnue mais environ 250 cas ont été rapportés
Externí odkaz:
https://doaj.org/article/c479b589ecf5483282d17966af3602a5