Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
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
Published in Nature communications (12.03.2019)
Published in Nature communications (12.03.2019)
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Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report
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Published in BMC medical genomics (06.01.2021)
Published in BMC medical genomics (06.01.2021)
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Rupture post traumatique de la membrane de Bruch: à propos d'un cas
Ahbeddou, Sanaa, Ahmimeche, Jinane, Tzili, Nazih, Alami, Fadoua, Sebbah, Ramzia, Elorch, Hamza, Berraho, Amina
Published in The Pan African medical journal (28.08.2015)
Published in The Pan African medical journal (28.08.2015)
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Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene
Ratbi, Ilham, Jaouad, Imane Cherkaoui, Elorch, Hamza, Al-Sheqaih, Nada, Elalloussi, Mustapha, Lyahyai, Jaber, Berraho, Amina, Newman, William G, Sefiani, Abdelaziz
Published in European journal of medical genetics (01.10.2016)
Published in European journal of medical genetics (01.10.2016)
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Post Traumatic rupture of Bruch membrane: about a case
Ahbeddou, Sanaa, Ahmimeche, Jinane, Tzili, Nazih, Alami, Fadoua, Sebbah, Ramzia, Elorch, Hamza, Berraho, Amina
Published in The Pan African medical journal (2015)
Published in The Pan African medical journal (2015)
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