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

بواسطة Lamzouri, Afaf, Ratbi, Ilham, Sefiani, Abdelaziz
منشور في 2013

Analysis of Dystrophin Gene Deletions by Multiplex PCR in Moroccan Patients

بواسطة Sbiti, Aziza, El Kerch, Fatiha, Sefiani, Abdelaziz
منشور في 2002

The Moroccan human mutation database

بواسطة Ratbi, Ilham, Gati, Alae-eddine, Sefiani, Abdelaziz
منشور في 2008

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

بواسطة Ouldim, Karim, Natiq, Abdelhafid, Jonveaux, Philippe, Sefiani, Abdelaziz
منشور في 2007

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

بواسطة Cherkaoui Jaouad, Imane, Guaoua, Soukaina, Hajjioui, Aicha, Sefiani, Abdelaziz
منشور في 2014

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

بواسطة Doubaj, Yassamine, Smaili, Wiam, Laarabi, Fatima-Zahra, Sefiani, Abdelaziz
الحاوية / القاعدة 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

بواسطة Lamzouri, Afaf, Natiq, Abdelhafid, Tajir, Mariam, Sendid, Mohamed, Sefiani, Abdelaziz
منشور في 2012

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

بواسطة Natiq, Abdelhafid, Elalaoui, Siham Chafai, Liehr, Thomas, Amzazi, Saïd, Sefiani, Abdelaziz
منشور في 2014

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

بواسطة Zerkaoui, Maria, Laarabi, Fatima Zahra, Ajhoun, Yousra, Chkirate, Bouchra, Sefiani, Abdelaziz
الحاوية / القاعدة J Med Case Rep (2018)

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

بواسطة Ouhenach, Mouna, Zrhidri, Abdelali, Jaouad, Imane Cherkaoui, Smaili, Wiam, Sefiani, Abdelaziz
الحاوية / القاعدة BMC Med Genet (2020)

Renal amyloidosis due to familial mediterranean fever misdiagnosed

بواسطة Hama, Iman, Ilham, Ratbi, Ouzeddoun, Naima, Alhamany, Zaitouna, Bayahia, Radia, Sefiani, Abdelaziz
منشور في 2012

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

بواسطة Ratbi, Ilham, Fejjal, Nawfal, Legendre, Marie, Collot, Nathalie, Amselem, Serge, Sefiani, Abdelaziz
الحاوية / القاعدة J Med Case Rep (2014)

Moroccan consanguineous family with Becker myotonia and review

بواسطة Ratbi, Ilham, Elalaoui, Siham Chafai, Escudero, Adela, Kriouile, Yamina, Molano, Jesus, Sefiani, Abdelaziz
منشور في 2011

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

بواسطة Amasdl, Saadia, Natiq, Abdelhafid, Elalaoui, Siham Chafai, Sbiti, Aziza, Liehr, Thomas, Sefiani, Abdelaziz
الحاوية / القاعدة 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

بواسطة El Kerch, Fatiha, Ratbi, Ilham, Sbiti, Aziza, Laarabi, Fatima-Zohra, Barkat, Amina, Sefiani, Abdelaziz
منشور في 2014

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

بواسطة Ratbi, Ilham, Lyahyai, Jaber, Kabiri, Meryem, Banouar, Meryem, Zerkaoui, Maria, Barkat, Amina, Sefiani, Abdelaziz
الحاوية / القاعدة 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

بواسطة El Kadiri, Youssef, Ratbi, Ilham, Laarabi, Fatima Zahra, Kriouile, Yamna, Sefiani, Abdelaziz, Lyahyai, Jaber
الحاوية / القاعدة BMC Med Genomics (2021)

Mowat-Wilson syndrome in a Moroccan consanguineous family

بواسطة Ratbi, Ilham, Elalaoui, Chafai Siham, Dastot-Le, Moal Florence, Goossens, Michel, Giurgea, Irina, Sefiani, Abdelaziz
منشور في 2007

Syndrome de Costello: à propos d'une observation

بواسطة Tajir, Mariam, Fergelot, Patricia, Lancelot, Gwenaelle, Arveiler, Benoit, Elalaoui, Siham Chafai, Lacombe, Didier, Sefiani, Abdelaziz
منشور في 2012

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

بواسطة Natiq, Abdelhafid, Elalaoui, Siham Chafai, Miesch, Sevrine, Bonnet, Celine, Jonveaux, Philippe, Amzazi, Saaïd, Sefiani, Abdelaziz
منشور في 2014