Search Results - M. El Khorassani

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  1. 1
    Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

    Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment by Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano‐Rivas, Christine G. Spaeth, Stéphanie Efthymiou, Pasquale Striano, Jana Vandrovcová, Maria Concetta Cutrupi, Roberto Chimenz, Emanuele David, Gabriella Di Rosa, Anna Marcé‐Grau, Miquel Raspall‐Chaure, Elena Martín‐Hernández, Federico Zara, Carlo Minetti, Oscar D. Bello, Rita De Zorzi, Sara Fortuna, Andrew Dauber, Mariam Alkhawaja, Tipu Sultan, Kshitij Mankad, Antonio Vitobello, Quentin Thomas, Frédéric Tran Mau‐Them, Laurence Faivre, Francisco Martínez‐Azorín, Carlos E. Prada, Alfons Macaya, Dimitri M. Kullmann, James E. Rothman, Shyam S. Krishnakumar, Henry Houlden, Vincenzo Salpietro, Stéphanie Efthymiou, Yamna Kriouile, M. El Khorassani, M. Aguennouz, Blagovesta Marinova Karashova, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Lionel Van Maldergem, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Erica Pironti, Jatinder S. Goraya, Tipu Sultan, Salman Kirmani, Shahnaz Ibrahim, Farida Jan, Jun Mine, Selina Banu, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Barbara Garavaglia, Carmela Scuderi, Eugenia Borgione, Valeria Dipasquale, Maria Concetta Cutrupi, Simona Portaro, Benigno Monteagudo Sanchez, Mercedes Pineda-Marfa, Francina Munell, Alfons Macaya, Richard G. Boles, Gali Heimer, Savvas Papacostas, Andreea Manole, Nancy T. Malintan, M. Natalia Zanetti, Michael G. Hanna, James E. Rothman, Dimitri M. Kullmann, Henry Houlden

    Published 2019
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  2. 2
    Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

    Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination by Stéphanie Efthymiou, Vincenzo Salpietro, Nancy T. Malintan, Mallory Poncelet, Yamna Kriouile, Sara Fortuna, Rita De Zorzi, Katelyn Payne, Lindsay B. Henderson, Andrea Cortese, Sateesh Maddirevula, Nadia Alhashmi, Sarah Wiethoff, Mina Ryten, Juan A. Botía, Vincenzo Provitera, Markus Schuelke, Jana Vandrovcová, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard G. Boles, Savvas Papacostas, Michail Vikelis, James E. Rothman, Dimitri M. Kullmann, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Shen‐Yang Lim, Mohd. Farooq Shaikh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves Dauvilliers, Carlo Minetti, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed, Menelaos Pipis, Conceição Bettencourt, Simon Rinaldi, Laurence E. Walsh, Erin Torti, Valeria Iodice, Maryam Najafi, Ehsan Ghayoor Karimiani, Reza Maroofian, Karine Siquier-Pernet, Nathalie Boddaert, Pascale de Lonlay, Vincent Cantagrel, M. Aguennouz, M. El Khorassani, Miriam Schmidts, Fowzan S. Alkuraya, Simon Edvardson, Maria Nolano, Jérôme Devaux, Henry Houlden

    Published 2019
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  3. 3
    The World Federation of Hemophilia World Bleeding Disorders Registry: insights from the first 10,000 patients

    The World Federation of Hemophilia World Bleeding Disorders Registry: insights from the first 10,000 patients by Donna Coffin, Emma Gouider, Barbara A. Konkle, Cédric Hermans, Catherine Lambert, Saliou Diop, Emily Ayoub, Ellia Tootoonchian, Toong Youttananukorn, Pamela Dakik, Ticiana Pereira, Alfonso Iorio, Glenn F. Pierce, M. Abdel Mohsen, T A Adeyemo, Gyujin Sim, Nidal Karim Al-Rahal, C. Alexis, Tauqeer Ali, Omolade Augustina Awodu, B. Aysarieva, Aznida Firzah Abdul Aziz, N. Barsallo, Abhijit Biswas, Allison Blair, Jan Blatný, Munira Borhany, D. Castillo, Cristina Catarino, Ampaiwan Chuansumrit, Minette Coetzee, Auwalu Ibrahim, Saliou Diop, A. Djenouni, A. El Ekiaby, M. El Khorassani, Kathy Fawcett, A. Ganieva, Sukanya Govindan, Dalha Haliru Gwarzo, Stifanos Hailemariam, P. Harper, Seyed Hassan Tonekaboni, Mona Hassan, Cédric Hermans, F Hernández, A. Imran, Jacob John, Bijan Keikhaei, Taiwo R. Kotila, Chong Kin Liam, Wulandewi Marhaeni, Dora Mbanya, P. Mekjarusgul, N. Meknassi, Dejan Micić, Yohannie Mlombe, R. Motusheva, Deogratias Munube, Azusa Nagao, S. Najmi, Vijayakumar Narayana Pillai, Тимур Нарбеков, Desy Aswira Nasution, Rungrote Natesirinilkul, L. Nchimba, M. N’dogomo, Daniela Neme, Philippe Nguyên, HM. Nguyen, Mi-Sa Nguyen Thi, RK. Nigam, Festus Njuguna, Theresa Ukamaka Nwagha, Asharf Obeida, Shirley Owusu‐Ofori, J. Palascak, Gaia Pellegrini, Chepsy C Philip, CL. Ping, Bishesh Sharma Poudyal, Golam Rabbani, OA. Rakoto Alson, H. Razali, Theera Ruchutrakul, Arlette Ruiz‐Sàez, Supawee Saengboon, N Salhi, Mohamed Satti, Tao Guan, Syed Imran Ali Shah, T. Shikuku, Nance Yuan, N. Sidarthan, T. Siew Looi, N. Songthawee, Darintr Sosothikul, Pacharapan Surapolchai, S.Kep Ns. Elly Suryani, NA. Syakira

    Published 2023
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