Syndrome de Silver Russell: à propos de 3 cas et revue de la litterature

por Lamzouri, Afaf, Ratbi, Ilham, Sefiani, Abdelaziz
Publicado 2013

Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients

por Sbiti, Aziza, El Kerch, Fatiha, Sefiani, Abdelaziz
Publicado 2002

The Moroccan human mutation database

por Ratbi, Ilham, Gati, Alae-eddine, Sefiani, Abdelaziz
Publicado 2008

Tetrasomy 15q11-q13 Diagnosed by FISH in a Patient with Autistic Disorder

por Ouldim, Karim, Natiq, Abdelhafid, Jonveaux, Philippe, Sefiani, Abdelaziz
Publicado 2007

Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report

por Cherkaoui Jaouad, Imane, Guaoua, Soukaina, Hajjioui, Aicha, Sefiani, Abdelaziz
Publicado 2014

A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report

por Doubaj, Yassamine, Smaili, Wiam, Laarabi, Fatima-Zahra, Sefiani, Abdelaziz
Publicado en J Med Case Rep (2017)

Le diagnostic anténatal de la trisomie 21 par l'hybridation in situ en fluorescence (FISH): à propos des premiers tests réalisés au Maroc

por Lamzouri, Afaf, Natiq, Abdelhafid, Tajir, Mariam, Sendid, Mohamed, Sefiani, Abdelaziz
Publicado 2012

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 single variant in the MEFV gene causing Mediterranean fever and Behçet’s disease: a case report

por Zerkaoui, Maria, Laarabi, Fatima Zahra, Ajhoun, Yousra, Chkirate, Bouchra, Sefiani, Abdelaziz
Publicado en J Med Case Rep (2018)

Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis

por Ouhenach, Mouna, Zrhidri, Abdelali, Jaouad, Imane Cherkaoui, Smaili, Wiam, Sefiani, Abdelaziz
Publicado en BMC Med Genet (2020)

Renal amyloidosis due to familial mediterranean fever misdiagnosed

por Hama, Iman, Ilham, Ratbi, Ouzeddoun, Naima, Alhamany, Zaitouna, Bayahia, Radia, Sefiani, Abdelaziz
Publicado 2012

Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report

por Ratbi, Ilham, Fejjal, Nawfal, Legendre, Marie, Collot, Nathalie, Amselem, Serge, Sefiani, Abdelaziz
Publicado en J Med Case Rep (2014)

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 en J Med Case Rep (2016)

Carrier Frequency of the c.525delT Mutation in the SGCG Gene and Estimated Prevalence of Limb Girdle Muscular Dystrophy Type 2C Among the Moroccan Population

por El Kerch, Fatiha, Ratbi, Ilham, Sbiti, Aziza, Laarabi, Fatima-Zohra, Barkat, Amina, Sefiani, Abdelaziz
Publicado 2014

The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin

por Ratbi, Ilham, Lyahyai, Jaber, Kabiri, Meryem, Banouar, Meryem, Zerkaoui, Maria, Barkat, Amina, Sefiani, Abdelaziz
Publicado en Ann Saudi Med (2015)

Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report

por El Kadiri, Youssef, Ratbi, Ilham, Laarabi, Fatima Zahra, Kriouile, Yamna, Sefiani, Abdelaziz, Lyahyai, Jaber
Publicado en BMC Med Genomics (2021)

Mowat-Wilson syndrome in a Moroccan consanguineous family

por Ratbi, Ilham, Elalaoui, Chafai Siham, Dastot-Le, Moal Florence, Goossens, Michel, Giurgea, Irina, Sefiani, Abdelaziz
Publicado 2007

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