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

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

The Moroccan human mutation database

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

Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature

por El Kadiri, Youssef, Ratbi, Ilham, Sefiani, Abdelaziz, Lyahyai, Jaber
Publicado 2022

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 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

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 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 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

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

Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report

por Adadi, Najlae, Sahli, Maryem, Egéa, Grégory, Ratbi, Ilham, Taoudi, Mohamed, Zniber, Layla, Jdioui, Wafaa, El Mouatassim, Said, Sefiani, Abdelaziz
Publicado 2018

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

Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies

por Papadopoulos, Petros, Viennas, Emmanouil, Gkantouna, Vassiliki, Pavlidis, Cristiana, Bartsakoulia, Marina, Ioannou, Zafeiria-Marina, Ratbi, Ilham, Sefiani, Abdelaziz, Tsaknakis, John, Poulas, Konstantinos, Tzimas, Giannis, Patrinos, George P.
Publicado 2014

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

por Lahrouchi, Najim, George, Aman, Ratbi, Ilham, Schneider, Ronen, Elalaoui, Siham C., Moosa, Shahida, Bharti, Sanita, Sharma, Ruchi, Abu-Asab, Mones, Onojafe, Felix, Adadi, Najlae, Lodder, Elisabeth M., Laarabi, Fatima-Zahra, Lamsyah, Yassine, Elorch, Hamza, Chebbar, Imane, Postma, Alex V., Lougaris, Vassilios, Plebani, Alessandro, Altmueller, Janine, Kyrieleis, Henriette, Meiner, Vardiella, McNeill, Helen, Bharti, Kapil, Lyonnet, Stanislas, Wollnik, Bernd, Henrion-Caude, Alexandra, Berraho, Amina, Hildebrandt, Friedhelm, Bezzina, Connie R., Brooks, Brian P., Sefiani, Abdelaziz
Publicado 2019

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

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

por Škorić-Milosavljević, Doris, Lahrouchi, Najim, Bosada, Fernanda M., Dombrowsky, Gregor, Williams, Simon G., Lesurf, Robert, Tjong, Fleur V. Y., Walsh, Roddy, El Bouchikhi, Ihssane, Breckpot, Jeroen, Audain, Enrique, Ilgun, Aho, Beekman, Leander, Ratbi, Ilham, Strong, Alanna, Muenke, Maximilian, Heide, Solveig, Muir, Alison M., Hababa, Mariam, Cross, Laura, Zhou, Dihong, Pastinen, Tomi, Zackai, Elaine, Atmani, Samir, Ouldim, Karim, Adadi, Najlae, Steindl, Katharina, Rauch, Anita, Brook, David, Wilsdon, Anna, Kuipers, Irene, Blom, Nico A., Mulder, Barbara J., Mefford, Heather C., Keren, Boris, Joset, Pascal, Kruszka, Paul, Thiffault, Isabelle, Sheppard, Sarah E., Roberts, Amy, Lodder, Elisabeth M., Keavney, Bernard D., Clur, Sally-Ann B., Mital, Seema, Hitz, Marc-Philip, Christoffels, Vincent M., Postma, Alex V., Bezzina, Connie R.
Publicado 2021

Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

por Škorić-Milosavljević, Doris, Lahrouchi, Najim, Bosada, Fernanda M., Dombrowsky, Gregor, Williams, Simon G., Lesurf, Robert, Tjong, Fleur V. Y., Walsh, Roddy, El Bouchikhi, Ihssane, Breckpot, Jeroen, Audain, Enrique, Ilgun, Aho, Beekman, Leander, Ratbi, Ilham, Strong, Alanna, Muenke, Maximilian, Heide, Solveig, Muir, Alison M., Hababa, Mariam, Cross, Laura, Zhou, Dihong, Pastinen, Tomi, Zackai, Elaine, Atmani, Samir, Ouldim, Karim, Adadi, Najlae, Steindl, Katharina, Rauch, Anita, Brook, David, Wilsdon, Anna, Kuipers, Irene, Blom, Nico A., Mulder, Barbara J., Mefford, Heather C., Keren, Boris, Joset, Pascal, Kruszka, Paul, Thiffault, Isabelle, Sheppard, Sarah E., Roberts, Amy, Lodder, Elisabeth M., Keavney, Bernard D., Clur, Sally-Ann B., Mital, Seema, Hitz, Marc-Philip, Christoffels, Vincent M., Postma, Alex V., Bezzina, Connie R.
Publicado 2021