Torthaí cuardaigh - Fatima Rahman

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  1. 1
    Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome)

    Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder w... de réir Hadiba Bibi, Riaz Ahmad, Fatima Rahman, Shazia Maqbool, Muhammad Naeem, Stéphanie Efthymiou, Henry Houlden

    Foilsithe / Cruthaithe 2025
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  2. 2
    Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy

    Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy de réir Manju A. Kurian, Esther Meyer, Grace Vassallo, Neil V. Morgan, Nandhini Prakash, Shanaz Pasha, Nebula A. Hai, Salwati Shuib, Fatima Rahman, Evangeline Wassmer, J. Helen Cross, Finbar O’Callaghan, John Osborne, Ingrid E. Scheffer, Paul Gissen, Eamonn R. Maher

    Foilsithe / Cruthaithe 2010
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    Artigo
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  3. 3
    Spike specific IgG3 and nucleocapsid IgG response in serum serve as distinguishing immunological markers between SARS-CoV-2 infection and vaccination

    Spike specific IgG3 and nucleocapsid IgG response in serum serve as distinguishing immunological markers between SARS-CoV-2 infection and vaccination de réir Marjahan Akhtar, Md. Rashedul Islam, Fatema Khaton, Fatima Rahman, T. Sami, Imam Tauheed, Tasnuva Ahmed, Afroza Akter, Ishtiakul Islam Khan, Zahid Hasan Khan, Prasanta Kumar Biswas, Edward T. Ryan, Sayera Banu, Tahmina Shirin, Fahima Chowdhury, Ashraful Islam Khan, Taufiqur Rahman Bhuiyan, Farhana Khanam

    Foilsithe / Cruthaithe 2025
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  4. 4
    Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

    Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome de réir Danai Bem, Shin‐ichiro Yoshimura, Ricardo Bastos, F. F. Bond, Manju A. Kurian, Fatima Rahman, Mark T. Handley, Yavor Hadzhiev, Imran Masood, Ania Straatman‐Iwanowska, Andrew R. Cullinane, Alisdair McNeill, Shanaz Pasha, Gail Kirby, Katharine Foster, Zubair Ahmed, Jenny E.V. Morton, Denise Williams, John M. Graham, William B. Dobyns, Lydie Bürglen, John R. Ainsworth, Paul Gissen, Ferenc Müller, Eamonn R. Maher, Francis A. Barr, Irene A. Aligianis

    Foilsithe / Cruthaithe 2011
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  5. 5
    The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders

    The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders de réir Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Tracy Lau, Edward Cook, Javeria Raza Alvi, Hasnaa M. Elbendary, Jerry Jewell, Antonella Riva, Alessandro Orsini, Aglaia Vignoli, Zara Federico, Jessica Rosenblum, An‐Sofie Schoonjans, Matthias De Wachter, Ignacio Delgado Alvarez, Ana Felipe‐Rucián, Nourelhoda A. Haridy, Shahzad Haider, Mashaya Zaman, Selina Banu, Najwa Anwaar, Fatima Rahman, Shazia Maqbool, Rashmi Yadav, Vincenzo Salpietro, Reza Maroofian, Rajan Patel, Rupa Radhakrishnan, Sanjay P. Prabhu, Klaske D. Lichtenbelt, Helen Stewart, Yoshiko Murakami, Ulrike Löbel, Felice D’Arco, Emma Wakeling, Wendy D. Jones, Eleanor Hay, Sanjay Bhate, Thomas S. Jacques, David M. Mirsky, Matthew T. Whitehead, Maha S. Zaki, Tipu Sultan, Pasquale Striano, Anna Jansen, Maarten H. Lequin, Linda S. de Vries, Mariasavina Severino, Andrew C. Edmondson, Lara Menzies, Philippe M. Campeau, Henry Houlden, Amy McTague, Stéphanie Efthymiou, Kshitij Mankad

    Foilsithe / Cruthaithe 2024
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  6. 6
    Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia

    Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia de réir Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane Müller, Rolf Stucka, Christian Beetz, Stéphanie Efthymiou, Filippo M. Santorelli, Ahmed Alfares, Changlian Zhu, Anna Uhrová Mészárosová, Elham Alehabib, Somayeh Bakhtiari, Andreas Janecke, María Gabriela Otero, Jin Yun Helen Chen, James T Peterson, Tim M. Strom, Peter De Jonghe, Tine Deconinck, Willem De Ridder, Jonathan De Winter, Rossella Pasquariello, Ivana Ricca, Majid Alfadhel, Bart P.C. van de Warrenburg, R Portier, Carsten Bergmann, Saghar Ghasemi Firouzabadi, Sheng Chih Jin, Kaya Bilgüvar, Sherifa A. Hamed, Mohammed Abdelhameed, Nourelhoda A. Haridy, Shazia Maqbool, Fatima Rahman, Najwa Anwar, Jenny Carmichael, Alistair T. Pagnamenta, Nicholas Wood, Frédéric Tran Mau‐Them, Tobias B. Haack, Maja Di Rocco, Isabella Ceccherini, Michele Iacomino, Federico Zara, Vincenzo Salpietro, Marcello Scala, Marta Rusmini, Yiran Xu, Yinghong Wang, Yasuhiro Suzuki, Kishin Koh, Haitian Nan, Hiroyuki Ishiura, Shoji Tsuji, Laëtitia Lambert, Emmanuelle Schmitt, Elodie Lacaze, Hanna Küpper, David Dredge, Cara Skraban, Amy Goldstein, Mary Willis, Katheryn Grand, John M. Graham, Richard A. Lewis, Francisca Millan, Özgür Duman, Nihal Olgaç Dündar, Gökhan Uyanık, Lüdger Schöls, Peter Nürnberg, Gudrun Nürnberg, Andrea Català-Bordes, Pavel Seeman, Martin Kuchar, Hossein Darvish, Adriana Rebelo, Filipa Bouçanova, Jean‐Jacques Médard, Roman Chrast, Michaela Auer‐Grumbach, Fowzan S. Alkuraya, Hanan E. Shamseldin, Saeed Al Tala, Jamileh Rezazadeh Varaghchi, Maryam Najafi, Selina Deschner, Dieter Gläser, Wolfgang Hüttel, Michael C. Kruer, Erik-Jan Kamsteeg, Yoshihisa Takiyama, Stephan Züchner, Jonathan Baets, Matthis Synofzik, Rebecca Schüle, Rita Horváth

    Foilsithe / Cruthaithe 2021
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