A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review

por Elalaoui, Siham Chafai, Mariam, Tajir, Ilham, Ratbi, Yassamine, Doubaj, Abdelaziz, Sefiani
Publicado 2011

Characterization of a rare short arm heteromorphism of chromosome 22 in a girl with down-syndrome like facies

por Natiq, Abdelhafid, Elalaoui, Siham Chafai, Liehr, Thomas, Amzazi, Saïd, Sefiani, Abdelaziz
Publicado 2014

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

por Smaili, W., Elalaoui, S. Chafai, Meier, S., Zerkaoui, M., Sefiani, A., Heinimann, K.
Publicado 2017

Moroccan consanguineous family with Becker myotonia and review

por Ratbi, Ilham, Elalaoui, Siham Chafai, Escudero, Adela, Kriouile, Yamina, Molano, Jesus, Sefiani, Abdelaziz
Publicado 2011

Insulin-like growth factor type 1 deficiency in a Moroccan patient with de novo inverted duplication 9p24p12 and developmental delay: a case report

por Amasdl, Saadia, Natiq, Abdelhafid, Elalaoui, Siham Chafai, Sbiti, Aziza, Liehr, Thomas, Sefiani, Abdelaziz
Publicado 2016

Syndrome de Costello: à propos d'une observation

por Tajir, Mariam, Fergelot, Patricia, Lancelot, Gwenaelle, Arveiler, Benoit, Elalaoui, Siham Chafai, Lacombe, Didier, Sefiani, Abdelaziz
Publicado 2012

A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay

por Natiq, Abdelhafid, Elalaoui, Siham Chafai, Miesch, Sevrine, Bonnet, Celine, Jonveaux, Philippe, Amzazi, Saaïd, Sefiani, Abdelaziz
Publicado 2014

Distribution of allelic and genotypic frequencies of NAT2 and CYP2E1 variants in Moroccan population

por Guaoua, Soukaina, Ratbi, Ilham, Laarabi, Fatima Zahra, Elalaoui, Siham Chafai, Jaouad, Imane Cherkaoui, Barkat, Amina, Sefiani, Abdelaziz
Publicado 2014

Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome

por Amllal, Nada, Elalaoui, Siham Chafai, Zerkaoui, Maria, Chiguer, Amal, Afif, Lamia, Izgua, Amal Thimou, Sefiani, Abdelaziz, Lyahyai, Jaber
Publicado 2024

High frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast–ovarian cancer prevention and control

por Laarabi, Fatima-Zahra, Ratbi, Ilham, Elalaoui, Siham Chafai, Mezzouar, Loubna, Doubaj, Yassamine, Bouguenouch, Laila, Ouldim, Karim, Benjaafar, Noureddine, Sefiani, Abdelaziz
Publicado 2017

Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome

por Elalaoui, Siham Chafai, Smaili, Wiam, Van-Gils, Julien, Fergelot, Patricia, Ratbi, Ilham, Tajir, Mariam, Arveiler, Benoit, Lacombe, Didier, Sefiani, Abdelaziz
Publicado 2021

Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report

por Elalaoui, Siham Chafai, Fejjal, Nawfal, Li, Yun, Thiele, Holger, Altmüller, Janine, Guaoua, Soukaina, Nürnberg, Peter, Wollnik, Bernd, Sefiani, Abdelaziz, Ratbi, Ilham
Publicado 2021

Inherited dilated cardiomyopathy in a large Moroccan family caused by LMNA mutation

por Adadi, Najlae, Radi, Fatima Zohra, Lahrouchi, Najim, Hara, Loubna, Ratbi, Ilham, Elalaoui, Siham Chafai, Alders, Marielle, Zarzur, Jamila, Bezzina, Connie, Sefiani, Abdelaziz
Publicado 2018

Clinical, cytogenetic and molecular findings in nine Moroccan patients with Fanconi anemia

por Doubaj, Yassamine, Zrhidri, Abdelali, Elalaoui, Siham Chafai, Lyahyai, Jaber, El Kadiri, Youssef, Elkassimi, Nadia, Sbiti, Aziza, El Kababri, Maria, Hessissen, Laila, Sefiani, Abdelaziz
Publicado 2021

Natural history of non-lethal Raine syndrome during childhood

por Mameli, Chiara, Zichichi, Giulia, Mahmood, Nasim, Elalaoui, Siham Chafai, Mirza, Adnan, Dharmaraj, Poonam, Burrone, Marco, Cattaneo, Elisa, Sheth, Jayesh, Gandhi, Ajit, Kochar, Gurpreet Singh, Alkuraya, Fowzan Sami, Kabra, Madhulika, Mercurio, Giuseppe, Zuccotti, Gianvincenzo
Publicado 2020