Moroccan consanguineous family with Becker myotonia and review by Ilham Ratbi, Siham Chafai Elalaoui, Adela Escudero, Yamina Kriouile, Jesus Molano, Abdelaziz Sefiani

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Two Infants with Beckwith-Wiedemann Syndrome by Ratbi I, Elalaoui S, Sefiani A

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La tumeur de Buschke-Lowenstein anorectale: à propos de 16 cas et revue de la littérature by Noureddine Njoumi, Mohamed Tarchouli, Moulay Brahim Ratbi, Mohamed Reda Elochi, Rajae Yamoul, Hafid Hachi, Abdesslam Bougtab

“…Son traitement est difficile même si l'Noureddine Njoumi1, Mohamed Tarchouli1, Moulay Brahim Ratbi1, Mohamed Reda Elochi2, Rajae Yamoul1, Hafid Hachi1, Abdesslam Bougtab1histologie confirme la bénignité. …”
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Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome by Ilham Ratbi, Siham Chafai Elalaoui, Marie-Pierre Moizard, Martine Raynaud, Abdelaziz Sefiani

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Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report by Lamzouri A, EL Rherbi A, Ratbi I, Laarabi FZ, Chahboune R, Elalaoui SC, Hamdaoui H, Bencheikh RS, Sefiani A

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Calcifying Fibrous Tumor of the Mesentery: A Case Report and a Review of the Literature by Derqaoui Sabrine, Elouazzani Hafsa, Ratbi Amine, Bernoussi Zakia, Zouaidia Fouad

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Surgery of benign neurogenic tumors in adults: single institution experience by Fayéal El Oueriachi, Moulay Brahim Ratbi, Adil Arsalane, Mohamed Massine El Hammoumi, El Hassane Kabiri

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Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report by Najlae Adadi, Maryem Sahli, Grégory Egéa, Ilham Ratbi, Mohamed Taoudi, Layla Zniber, Wafaa Jdioui, Said El Mouatassim, Abdelaziz Sefiani

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Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report by N. Adadi, N. Lahrouchi, R. Bouhouch, I. Fellat, R. Amri, M. Alders, A. Sefiani, C. Bezzina, I. Ratbi

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The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin by Ilham Ratbi, Jaber Lyahyai, Meryem Kabiri, Meryem Banouar, Maria Zerkaoui, Amina Barkat, Abdelaziz Sefiani

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Tumeur stromale du mésentère: une cause inhabituelle d'une masse abdominale by Mohamed Tarchouli, Ahmed Bounaim, Adil Boudhas, Moulay Brahim Ratbi, Bobby Nguele Ndjota, Abdelmounaim Ait Ali, Khalid Sair

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Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature by Youssef El Kadiri, Ilham Ratbi, Abdelaziz Sefiani, Jaber Lyahyai

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Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report by Youssef El Kadiri, Ilham Ratbi, Fatima Zahra Laarabi, Yamna Kriouile, Abdelaziz Sefiani, Jaber Lyahyai

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Homozygous nonsense mutation of WTN10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report by Siham Chafai Elalaoui, Nawfal Fejjal3, Yun Li, Holger Thiele, Janine Altmüller, Soukaina Guaoua, Peter Nürnberg, Bernd Wollnik, Abdelaziz Sefiani, Ilham Ratbi

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

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Léiomyosarcome gastrique simulant une tumeur du hile splénique: à propos d�un cas by Mohamed Tarchouli, Ahmed Bounaim, Moulay Brahim Ratbi, Mohamed Said Belhamidi, Abdelhak Bensal, Badr Aitidir, Adil Boudhas, Abdelmounaim Ait Ali, Khalid Sair

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A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature by Fatima Ouboukss, Fatima Ouboukss, Zhour El Amrani, Zhour El Amrani, Hicham Bouchahta, Ilham Ratbi, Aziza Sbiti, Thomas Liehr, Abdelaziz Sefiani, Abdelaziz Sefiani, Abdelhafid Natiq

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Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco by Youssef El Kadiri, Ilham Ratbi, Mouna Ouhenach, Siham Chafai Elalaoui, Imane Cherkaoui Jaouad, Abdelali Zrhidri, Maryem Sahli, Nazha Birouk, Abdelaziz Sefiani, Jaber Lyahyai

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Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly by Najim Lahrouchi, Aman George, Ilham Ratbi, Ronen Schneider, Siham C. Elalaoui, Shahida Moosa, Sanita Bharti, Ruchi Sharma, Mones Abu-Asab, Felix Onojafe, Najlae Adadi, Elisabeth M. Lodder, Fatima-Zahra Laarabi, Yassine Lamsyah, Hamza Elorch, Imane Chebbar, Alex V. Postma, Vassilios Lougaris, Alessandro Plebani, Janine Altmueller, Henriette Kyrieleis, Vardiella Meiner, Helen McNeill, Kapil Bharti, Stanislas Lyonnet, Bernd Wollnik, Alexandra Henrion-Caude, Amina Berraho, Friedhelm Hildebrandt, Connie R. Bezzina, Brian P. Brooks, Abdelaziz Sefiani

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