Showing 1 - 6 results of 6 for search 'Ariana Kariminejad', query time: 0.72s
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Bi‐allelic loss of function variant in the NRCAM gene is associated with motor‐predominant axonal polyneuropathy; the second report by Zohreh Elahi, Mohamad Soveyzi, Shahriar Nafissi, Yalda Nilipour, Masoumeh Goleyjani Moghadam, Elham Keshavarz, Ariana Kariminejad, Hossein Najmabadi, Zohreh Fattahi
Published 2023-04-01
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P483: A comprehensive study of spinal muscular atrophy testing referrals’ data among the Iranian population since 2006 by Ali Khanbazi, Maryam Beheshtian, Maryam Azad, Masoume Akbari, Fariba Afrozan, Fatemeh Fatehi, Khadijeh Noudehi, Shima Zamanian Najafabadi, Ariana Kariminejad, Kimia Kahrizi, Hossein Najmabadi
Published 2024-01-01
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P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders by Ayda Abolhassani, Zohreh Fattahi, Maryam Beheshtian, Mahsa Fadaee, Raheleh Vazehan, Fatemeh Ahangari, Shima Dehdahsi, Mehrshid Faraji Zonooz, Elham Parsimehr, Zahra Kalhor, Fatemeh Peymani, Maryam Mozaffarpour Nouri, Mojgan Babanejad, Khadijeh Noudehi, Fatemeh Fatehi, Shima Zamanian Najafabadi, Fariba Afroozan, Hilda Yazdan, Bita Bozorgmehr, Azita Azarkeivan, Shokouh Sadat Mahdavi, Pooneh Nikuei, Farzad Fatehi, Payman Jamali, Mahmoud Reza Ashrafi, Parvaneh Karimzadeh, Haleh Habibi, Kimia Kahrizi, Shahriar Nafissi, Ariana Kariminejad, Hossein Najmabadi
Published 2024-01-01
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Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population by Ayda Abolhassani, Zohreh Fattahi, Maryam Beheshtian, Mahsa Fadaee, Raheleh Vazehan, Fatemeh Ahangari, Shima Dehdahsi, Mehrshid Faraji Zonooz, Elham Parsimehr, Zahra Kalhor, Fatemeh Peymani, Maryam Mozaffarpour Nouri, Mojgan Babanejad, Khadijeh Noudehi, Fatemeh Fatehi, Shima Zamanian Najafabadi, Fariba Afroozan, Hilda Yazdan, Bita Bozorgmehr, Azita Azarkeivan, Shokouh Sadat Mahdavi, Pooneh Nikuei, Farzad Fatehi, Payman Jamali, Mahmoud Reza Ashrafi, Parvaneh Karimzadeh, Haleh Habibi, Kimia Kahrizi, Shahriar Nafissi, Ariana Kariminejad, Hossein Najmabadi
Published 2024-02-01
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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation by Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
Published 2024-02-01
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