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

Cytogenetic Investigation in a Group of Ten Infertile Men with Non-Obstructive Azoospermia: First Algerian 46, XX Syndrome

por BAZIZ, Meriem, HAMOULI-SAID, Zohra, RATBI, Ilham, HABEL, Mohamed, GUAOUA, Soukaina, SBITI, Aziza, SEFIANI, Abdelaziz
Publicado 2016

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

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

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

por Ratbi, Ilham, Falkenberg, Kim D., Sommen, Manou, Al-Sheqaih, Nada, Guaoua, Soukaina, Vandeweyer, Geert, Urquhart, Jill E., Chandler, Kate E., Williams, Simon G., Roberts, Neil A., El Alloussi, Mustapha, Black, Graeme C., Ferdinandusse, Sacha, Ramdi, Hind, Heimler, Audrey, Fryer, Alan, Lynch, Sally-Ann, Cooper, Nicola, Ong, Kai Ren, Smith, Claire E.L., Inglehearn, Christopher F., Mighell, Alan J., Elcock, Claire, Poulter, James A., Tischkowitz, Marc, Davies, Sally J., Sefiani, Abdelaziz, Mironov, Aleksandr A., Newman, William G., Waterham, Hans R., Van Camp, Guy
Publicado 2015