檢索結果 - Dimah Saade

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  1. 1
    Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011

    Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011 由 Hager Al Hosani, M. Salah, Hesham Osman, Hassan M Farag, Lobna El Assiouty, Dimah Saade, Jozef Hertecant

    出版 2014
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  2. 2
    <i>GMPPB</i>-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

    <i>GMPPB</i>-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation 由 Braden S. Jensen, Tobias Willer, Dimah Saade, Mary O. Cox, Tahseen Mozaffar, Mena Scavina, Vikki Stefans, Thomas Winder, Kevin P. Campbell, Steven A. Moore, Katherine D. Mathews

    出版 2015
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  3. 3
    PIEZO2 in sensory neurons and urothelial cells coordinates urination

    PIEZO2 in sensory neurons and urothelial cells coordinates urination 由 Kara L. Marshall, Dimah Saade, Nima Ghitani, Adam Coombs, Marcin Szczot, Jason Keller, Tracy Ogata, I. Daou, Lisa Stowers, Carsten G. Bönnemann, Alexander T. Chesler, Ardem Patapoutian

    出版 2020
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  4. 4
    SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency

    SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency 由 Adriana Rebelo, Dimah Saade, Cláudia V. Pereira, Amjad Farooq, Tyler C. Huff, Lisa Abreu, Carlos T. Moraes, Diana Mnatsakanova, Katherine D. Mathews, Hua Yang, Eric A. Schon, Stephan Züchner, Michael E. Shy

    出版 2017
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  5. 5
    PIEZO2 in somatosensory neurons controls gastrointestinal transit

    PIEZO2 in somatosensory neurons controls gastrointestinal transit 由 M. Rocio Servin‐Vences, Ruby M. Lam, Alize Koolen, Yu Wang, Dimah Saade, Meaghan Loud, Halil Kacmaz, Suzanne Frausto, Yunxiao Zhang, Arthur Beyder, Kara L. Marshall, Carsten G. Bönnemann, Alexander T. Chesler, Ardem Patapoutian

    出版 2023
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  6. 6
    PIEZO2 and perineal mechanosensation are essential for sexual function

    PIEZO2 and perineal mechanosensation are essential for sexual function 由 Ruby M. Lam, Lars J. von Buchholtz, Mélanie Falgairolle, Jennifer Osborne, Eleni Frangos, M. Rocio Servin‐Vences, Maximilian Nagel, Minh Quang Nguyen, Monessha Jayabalan, Dimah Saade, Ardem Patapoutian, Carsten G. Bönnemann, Nicholas J. P. Ryba, Alexander T. Chesler

    出版 2023
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  7. 7
    PIEZO2 mediates injury-induced tactile pain in mice and humans

    PIEZO2 mediates injury-induced tactile pain in mice and humans 由 Marcin Szczot, Jaquette Liljencrantz, Nima Ghitani, Arnab Barik, Ruby M. Lam, James H. Thompson, Diana Bharucha‐Goebel, Dimah Saade, Aaron Necaise, Sandra Donkervoort, A. Reghan Foley, Taylor M. Gordon, Laura Case, M. Catherine Bushnell, Carsten G. Bönnemann, Alexander T. Chesler

    出版 2018
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  8. 8
    An ultrafast system for signaling mechanical pain in human skin

    An ultrafast system for signaling mechanical pain in human skin 由 Saad S. Nagi, Andrew Marshall, Adarsh Makdani, Ewa Jarocka, Jaquette Liljencrantz, Mikael Ridderström, Sumaiya Shaikh, Francis O’Neill, Dimah Saade, Sandra Donkervoort, A. Reghan Foley, Jan Minde, Mats Trulsson, Jonathan Cole, Carsten G. Bönnemann, Alexander T. Chesler, M. Catherine Bushnell, Francis McGlone, Håkan Olausson

    出版 2019
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  9. 9
    Clinical characterization of Collagen <scp>XII</scp>‐related disease caused by biallelic <i>COL12A1</i> variants

    Clinical characterization of Collagen <scp>XII</scp>‐related disease caused by biallelic <i>COL12A1</i> variants 由 Riley M. McCarty, Dimah Saade, Pinki Munot, Chamindra G. Laverty, Hailey Pinz, Yaqun Zou, Meghan McAnally, Pomi Yun, Cuixia Tian, Ying Hu, Lucy Feng, Rahul Phadke, Sophia Ceulemans, Pilar Magoulas, Andrew J. Skalsky, Jennifer Friedman, Stephen R. Braddock, Sarah Neuhaus, Denise Malicki, Matthew N. Bainbridge, Shareef Nahas, David Dimmock, Stephen F. Kingsmore, Timothy Lotze, A. Reghan Foley, Francesco Muntoni, Volker Straub, Sandra Donkervoort, Carsten G. Bönnemann

    出版 2025
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  10. 10
    Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

    Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy 由 Joel A. Morales‐Rosado, Tanya L. Schwab, Sarah K. Macklin‐Mantia, A. Reghan Foley, Filippo Pinto e Vairo, Davut Pehli̇van, Sandra Donkervoort, Jill A. Rosenfeld, Grace E. Boyum, Ying Hu, Anh Cong, Timothy Lotze, Carrie Mohila, Dimah Saade, Diana Bharucha‐Goebel, Katherine R. Chao, Christopher Grunseich, Christine C. Bruels, Hannah R. Littel, Elicia Estrella, Lynn Pais, Peter B. Kang, Michael T. Zimmermann, James R. Lupski, Brendan Lee, Matthew J. Schellenberg, Karl J. Clark, Klaas J. Wierenga, Carsten G. Bönnemann, Eric W. Klee

    出版 2023
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  11. 11
    Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

    Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis 由 Payam Mohassel, Sandra Donkervoort, Museer A. Lone, Matthew Nalls, Kenneth Gable, Sita D. Gupta, A. Reghan Foley, Ying Hu, Jonas Alex Morales Saute, Ana Lucila Moreira, Fernando Kok, Alessandro Introna, Giancarlo Logroscino, Christopher Grunseich, Alec R. Nickolls, Naemeh Pourshafie, Sarah Neuhaus, Dimah Saade, Andrea Gangfuß, Heike Kölbel, Zoe Piccus, Claire E. Le Pichon, Chiara Fiorillo, Cindy V. Ly, Ana Töpf, Lauren Brady, Sabine Specht, Aliza Zidell, Hélio Pedro, Eric Mittelmann, Florian P. Thomas, Katherine R. Chao, Chamindra G. Konersman, Megan T. Cho, Tracy Brandt, Volker Straub, Anne M. Connolly, Ulrike Schara, Andreas Roos, Mark A. Tarnopolsky, Ahmet Höke, Robert H. Brown, Chia‐Hsueh Lee, Thorsten Hornemann, Teresa Dunn, Carsten G. Bönnemann

    出版 2021
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  12. 12
    MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

    MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement 由 Sandra Donkervoort, Rasha Sabouny, Pomi Yun, Laurence Gauquelin, Katherine R. Chao, Ying Hu, Iman Al Khatib, Ana Töpf, Payam Mohassel, Beryl B. Cummings, Rupleen Kaur, Dimah Saade, Steven A. Moore, Leigh B. Waddell, Michelle A. Farrar, Julia K. Goodrich, Prech Uapinyoying, H.S. Chan, Asif Javed, M. Leach, Peter Karachunski, Joline Dalton, L. Medne, A. Harper, Caroline A. Thompson, Isabelle Thiffault, Sabine Specht, Ryan E. Lamont, Carol Saunders, Hilary Racher, François Bernier, David Mowat, Nanna Witting, John Vissing, Ronald K. Hanson, Keith A. Coffman, Meagan K. Hainlen, Jillian S. Parboosingh, Amanda Carnevale, Grace Yoon, Rhonda E. Schnur, KM Boycott, Jean K. Mah, Volker Straub, A. Reghan Foley, A. Micheil Innes, Carsten G. Bönnemann, Timothy E. Shutt

    出版 2019
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