Výsledky vyhledávání - Shazia Maqbool

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  1. 1
    Pathobiology and Regulation of Eosinophils, Mast Cells, and Basophils in Allergic Asthma

    Pathobiology and Regulation of Eosinophils, Mast Cells, and Basophils in Allergic Asthma Autor Christiane E. Whetstone, Reem Amer, Shazia Maqbool, Tooba Javed, Gail M. Gauvreau

    Vydáno 2025
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  2. 2
    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... Autor Hadiba Bibi, Riaz Ahmad, Fatima Rahman, Shazia Maqbool, Muhammad Naeem, Stéphanie Efthymiou, Henry Houlden

    Vydáno 2025
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  3. 3
    Establishing performance standards for child development: learnings from the ECDI2030

    Establishing performance standards for child development: learnings from the ECDI2030 Autor Nicole Petrowski, Filipa de Castro, Susan Davis-Becker, Melissa Gladstone, Cláudia Regina Lindgren Alves, Yvonne Becher, Jennifer Grisham, Kirsten A. Donald, Meta van den Heuvel, Gwendoline Kandawasvika, Shazia Maqbool, Fahmida Tofail, Tao Xin, Pia Zeinoun, Claudia Cappa

    Vydáno 2023
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  4. 4
    Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

    Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy Autor Thi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, Marcello Niceta, Giuseppe Zampino, Christophe Philippe, Sébastien Moutton, Maha S. Zaki, Kiely N. James, Damir Musaev, Weiyi Mu, Kristin Barañano, Jessica Nance, Jill A. Rosenfeld, Nancy Braverman, Andrea Ciolfi, Francisca Millan, Richard Person, Ange-Line Bruel, Christel Thauvin‐Robinet, Athina Ververi, Catherine DeVile, Alison Male, Stéphanie Efthymiou, Reza Maroofian, Henry Houlden, Shazia Maqbool, Fatima Rahman, Nissan Vida Baratang, Justine Rousseau, Anik St‐Denis, Matthew J. Elrick, Irina Anselm, Lance H. Rodan, Marco Tartaglia, Joseph G. Gleeson, Taroh Kinoshita, Philippe M. Campeau

    Vydáno 2020
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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 Autor 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

    Vydáno 2024
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  6. 6
    Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

    Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants Autor Caroline Neuray, Reza Maroofian, Marcello Scala, Tipu Sultan, G. Shashidhar Pai, Majid Mojarrad, Heba El Khashab, Leigh deHoll, Wyatt W. Yue, Hessa S. Alsaif, M. Natalia Zanetti, Oscar D. Bello, Richard Person, Atieh Eslahi, Zaynab Khazaei, Masoumeh Heidari Feizabadi, Stéphanie Efthymiou, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, 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, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed, Hala T. El‐Bassyouni, Doaa Soliman, S. Tekeş, Leyla Özer, Volkan Baltacı, Suliman Khan, Christian Beetz, Khalda Amr, Vincenzo Salpietro, Yalda Jamshidi, Fowzan S. Alkuraya, Henry Houlden

    Vydáno 2020
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  7. 7
    Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

    Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification Autor Lucía Schottlaender, Rosella Abeti, Zane Jaunmuktane, Carol Macmillan, Viorica Chelban, Benjamin O’Callaghan, John McKinley, Reza Maroofian, Stéphanie Efthymiou, Alkyoni Athanasiou‐Fragkouli, Raeburn Forbes, Marc P. M. Soutar, John H. Livingston, Bernardett Kalmar, Orlando Swayne, Gary Hotton, Alan Pittman, João Ricardo Mendes de Oliveira, Maria De Grandis, Angela Richard-Loendt, Francesca Launchbury, Juri Althonayan, Gavin McDonnell, Aisling Carr, Suliman Khan, Christian Beetz, Atıl Bişgin, Sevcan Tuğ Bozdoğan, Amber Begtrup, Erin Torti, Linda Greensmith, Paola Giunti, Patrick J. Morrison, Sebastian Brandner, Michel Aurrand‐Lions, Henry Houlden, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, 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, Eleni Zamba Papanicolaou, Efthimios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Rana, Osama Atawneh, Georgios Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa A. Hamed

    Vydáno 2020
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  8. 8
    Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

    Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination Autor 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

    Vydáno 2019
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  9. 9
    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 Autor 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

    Vydáno 2021
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