Хайлтын үр дүнгүүд - Mahmoud R. Fassad

  • 14-н 1 - 14 үр дүнгүүдийг харуулж байна
Үр дүнг сайжруулах
  1. 1
    Axonemal structures reveal mechanoregulatory and disease mechanisms

    Axonemal structures reveal mechanoregulatory and disease mechanisms -н Travis Walton, Miao Gui, Simona A. Velkova, Mahmoud R. Fassad, Robert A. Hirst, Eric G. Haarman, Christopher O’Callaghan, Mathieu Bottier, Thomas Burgoyne, Hannah M. Mitchison, Alan Brown

    Хэвлэсэн 2023
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  2. 2
    Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort

    Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort -н Maryke Schoonen, Mahmoud R. Fassad, Krutik Patel, Michelle Bisschoff, Armand Vorster, Tendai Makwikwi, Ronel Human, Elsa Lubbe, Malebo Nonyane, Barend Christiaan Vorster, Ana Töpf, Michael G. Hanna, Robert W. Taylor, Robert McFarland, Lindsay A. Wilson, Francois H. van der Westhuizen, Izelle Smuts

    Хэвлэсэн 2025
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  3. 3
    C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

    C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia -н Mahmoud R. Fassad, Amelia Shoemark, Pierrick Le Borgne, France Koll, Mitali Patel, Mellisa Dixon, Jane Hayward, Charlotte Richardson, Emily Frost, Lucy Jenkins, Thomas Cullup, Eddie M.K. Chung, Michel Lemullois, Anne Aubusson‐Fleury, Claire Hogg, David R. Mitchell, Anne‐Marie Tassin, Hannah M. Mitchison

    Хэвлэсэн 2018
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  4. 4
    Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

    Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia -н Sunayna Best, Amelia Shoemark, Bruna Rubbo, Mitali Patel, Mahmoud R. Fassad, Mellisa Dixon, Andrew V. Rogers, Robert A. Hirst, Andrew Rutman, Sarah Ollosson, Claire L. Jackson, Patricia Goggin, Simon Thomas, Reuben J. Pengelly, Thomas Cullup, Eleni Pissaridou, Jane Hayward, Alexandros Onoufriadis, Christopher O’Callaghan, Michael R. Loebinger, Robert Wilson, Eddie M.K. Chung, Priti Kenia, Victoria Doughty, J. S. Carvalho, Jane S. Lucas, Hannah M. Mitchison, Claire Hogg

    Хэвлэсэн 2018
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  5. 5
    Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

    Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus -н Mahmoud R. Fassad, Amelia Shoemark, Marie Legendre, Robert A. Hirst, France Koll, Pierrick Le Borgne, Bruno Louis, Farheen Daudvohra, Mitali Patel, Lucie Thomas, Mellisa Dixon, Thomas Burgoyne, Joseph Hayes, Andrew G. Nicholson, Thomas Cullup, Lucy Jenkins, S.B. Carr, Paul Aurora, Michel Lemullois, Anne Aubusson‐Fleury, Jean‐François Papon, Christopher O’Callaghan, Serge Amselem, Claire Hogg, Estelle Escudier, Anne‐Marie Tassin, Hannah M. Mitchison

    Хэвлэсэн 2018
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  6. 6
    Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia

    Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia -н Amelia Shoemark, Bruna Rubbo, Marie Legendre, Mahmoud R. Fassad, Eric G. Haarman, Sunayna Best, Irma Bon, Joost Brandsma, Pierre‐Régis Burgel, Gunnar Carlsson, S.B. Carr, Mary Carroll, Matthew Edwards, Estelle Escudier, Isabelle Honoré, David Hunt, Grégory Jouvion, Michel R. Loebinger, Bernard Maître, Deborah Morris‐Rosendahl, Jean‐François Papon, Camille Parsons, Mitali Patel, N. Simon Thomas, Guillaume Thouvenin, Woolf T. Walker, Robert Wilson, Claire Hogg, Hannah M. Mitchison, Jane S. Lucas

    Хэвлэсэн 2021
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  7. 7
    Pathological variants in <i>TOP3A</i> cause distinct disorders of mitochondrial and nuclear genome stability

    Pathological variants in <i>TOP3A</i> cause distinct disorders of mitochondrial and nuclear genome stability -н Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R. Fassad, Sarah Mackenzie, Christopher M. Watson, Sebastian Valenzuela, Xie Xie, Katja E. Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Joanna Poulton, Héctor García‐Moreno, Paola Giunti, Carlos Alberto de Moura Aschoff, Jonas Alex Morales Saute, Amelia Jeanne Kirby, Camilo Toro, Lynne A. Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S. Gorman, Andrew M. Schaefer, Claes M. Gustafsson, Robert W. Taylor, Maria Falkenberg, Thomas J. Nicholls

    Хэвлэсэн 2023
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  8. 8
    Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

    Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort -н Mahmoud R. Fassad, Mitali Patel, Amelia Shoemark, Thomas Cullup, Jane Hayward, Mellisa Dixon, Andrew V. Rogers, Sarah Ollosson, Claire L. Jackson, Patricia Goggin, Robert A. Hirst, Andrew Rutman, James Thompson, Lucy Jenkins, Paul Aurora, Eduardo Moya, Philip Chetcuti, Chris O’Callaghan, Deborah Morris‐Rosendahl, Christopher M. Watson, Robert Wilson, S.B. Carr, Woolf Walker, Andreia Pitno, Susana S. Lopes, Heba Morsy, Walaa Shoman, L. Pereira, Carolina Constant, Michael R. Loebinger, Eddie M.K. Chung, Priti Kenia, Nisreen Rumman, Nader Fasseeh, Jane S. Lucas, Claire Hogg, Hannah M. Mitchison

    Хэвлэсэн 2019
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  9. 9
    High prevalence of <i>CCDC103</i> p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

    High prevalence of <i>CCDC103</i> p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations -н Amelia Shoemark, Eduardo Moya, Robert A. Hirst, Mitali Patel, Evelyn Robson, Jane Hayward, Juliet Scully, Mahmoud R. Fassad, William Lamb, Miriam Schmidts, Mellisa Dixon, Ramila S. Patel‐King, Andrew V. Rogers, Andrew Rutman, Claire L. Jackson, Patricia Goggin, Bruna Rubbo, Sarah Ollosson, S.B. Carr, Woolf Walker, Beryl Adler, Michael R. Loebinger, Robert Wilson, Andrew Bush, Hywel Williams, C. R. Boustred, Lucy Jenkins, Eamonn Sheridan, Eddie M.K. Chung, Christopher M. Watson, Thomas Cullup, Jane S. Lucas, Priti Kenia, Christopher O’Callaghan, Stephen M. King, Claire Hogg, Hannah M. Mitchison

    Хэвлэсэн 2017
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  10. 10
    Expanding the phenome and variome of skeletal dysplasia

    Expanding the phenome and variome of skeletal dysplasia -н Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, Nisha Patel, Fatema Alzahrani, Hanan E. Shamseldin, Shams Anazi, Nour Ewida, Hessa S. Alsaif, Jawahir Y. Mohamed, Anas M. Alazami, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Mohamed Abouelhoda, Dorota Monies, Nada Al Tassan, Muneera J. Alshammari, Afaf Alsagheir, Mohammed Zain Seidahmed, Samira Sogati, Mona Aglan, Muddathir H. Hamad, Mustafa A. Salih, Ahlam A. Hamed, Nadia Alhashmi, Amira Nabil, Fatima Alfadli, Ghada M. H. Abdel‐Salam, Hisham Alkuraya, Winnie Ong Peitee, Wee Teik Keng, Abdullah Qasem, Aziza Mushiba, Maha S. Zaki, Mahmoud R. Fassad, Majid Alfadhel, Saji Alexander, Yasser Sabr, Samia A. Temtamy, Alka V. Ekbote, Samira Ismail, Gamal Ahmed Hosny, Ghada A. Otaify, Khalda Amr, Saeed Al Tala, Arif O. Khan, Tamer Rizk, Aida I. Al‐Aqeel, Abdulmonem Alsiddiky, Ankur Singh, Seema Kapoor, Amal Alhashem, Eissa Faqeih, Ranad Shaheen, Fowzan S. Alkuraya

    Хэвлэсэн 2018
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  11. 11
    X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

    X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 -н Chiara Olcese, Mitali Patel, Amelia Shoemark, Santeri Kiviluoto, Marie Legendre, Hywel Williams, Cara K. Vaughan, Jane Hayward, Alice Goldenberg, Richard D. Emes, Mustafa M. Munye, Laura A. Dyer, Thomas J. Cahill, Jeremy Bevillard, Corinne Gehrig, Michel Guipponi, Sandra Chantot‐Bastaraud, Philippe Duquesnoy, Lucie Thomas, Ludovic Jeanson, Bruno Copin, Aline Tamalet, Christel Thauvin‐Robinet, Jean‐François Papon, Antoine Garin, Isabelle Pin, Gabriella Vera, Paul Aurora, Mahmoud R. Fassad, Lucy Jenkins, C. R. Boustred, Thomas Cullup, Mellisa Dixon, Alexandros Onoufriadis, Andrew Bush, Eddie M.K. Chung, Stylianos E. Antonarakis, Michael R. Loebinger, Robert Wilson, M Armengot, Estelle Escudier, Claire Hogg, Saeed Al-Turki, Carl A. Anderson, Dinu Antony, Inês Barroso, Philip L. Beales, Jamie Bentham, Shoumo Bhattacharya, Keren Carss, Krishna Chatterjee, Sebahattin Çirak, Catherine Cosgrove, D. Allan, Richard Durbin, David Fitzpatrick, Jamie Floyd, A. Reghan Foley, Chris Franklin, Marta Futema, Steve E. Humphries, Matt Hurles, Shane McCarthy, Dawn Muddyman, Francesco Muntoni, Victoria Parker, Felicity Payne, Vincent Plagnol, Lucy Raymond, David B. Savage, Peter Scambler, Miriam Schmidts, Robert K. Semple, Eva Serra, Jim Stalker, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Klaudia Walter, Serge Amselem, Zhaoxia Sun, Lucia Bartoloni, Jean-Louis Blouin, Hannah M. Mitchison

    Хэвлэсэн 2017
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  12. 12
    Neuromuscular disease genetics in under-represented populations: increasing data diversity

    Neuromuscular disease genetics in under-represented populations: increasing data diversity -н Lindsay A. Wilson, William L. Macken, Luke Perry, Christopher J. Record, Katherine Schon, Rodrigo Siqueira Soares Frezatti, Sharika Raga, K. Satyam Naidu, Özlem Yayıcı Köken, İpek Polat, Musambo M Kapapa, Natalia Dominik, Stéphanie Efthymiou, Heba Morsy, Melissa Nel, Mahmoud R. Fassad, Fei Gao, Krutik Patel, Maryke Schoonen, Michelle Bisschoff, Armand Vorster, Hallgeir Jonvik, Ronel Human, Elsa Lubbe, Malebo Nonyane, Seena Vengalil, Saraswati Nashi, Kosha Srivastava, Richard J.L.F. Lemmers, Alisha Reyaz, Rinkle Mishra, Ana Töpf, Christina Trainor, Elizabeth Steyn, Amokelani C. Mahungu, Patrick J. van der Vliet, Ahmet Cevdet Ceylan, Semra Hız Kurul, Büşranur Çavdarlı, Cavidan Nur Semerci Gündüz, Gülay Güleç Ceylan, Madhu Nagappa, Karthik Bharadwaj Tallapaka, Periyasamy Govindaraj, Silvère M. van der Maarel, Narayanappa Gayathri, Bevinahalli N. Nandeesh, Somwe Wa Somwe, David Bearden, Michelle Kvalsund, Gita Ramdharry, Yavuz Oktay, Uluç Yiş, Haluk Topaloğlu, Anna Sárközy, Enrico Bugiardini, Franclo Henning, Jo M. Wilmshurst, Jeannine M. Heckmann, Robert McFarland, Robert W. Taylor, Izelle Smuts, Francois H. van der Westhuizen, Cláudia Ferreira da Rosa Sobreira, Pedro José Tomaselli, Wilson Marques, Rohit Bhatia, Ashwin Dalal, M.V. Padma Srivastava, Sireesha Yareeda, Atchayaram Nalini, Venugopalan Y. Vishnu, Kumarasamy Thangaraj, Volker Straub, Rita Horváth, Patrick F. Chinnery, Robert D. S. Pitceathly, Francesco Muntoni, Henry Houlden, Jana Vandrovcová, Mary M. Reilly, Michael G. Hanna

    Хэвлэсэн 2023
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  13. 13
    Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

    Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy -н Ana Töpf, Dan Cox, Irina Zaharieva, Valeria Di Leo, J. Sarparanta, Per Harald Jonson, Ian M. Sealy, Andrei Smolnikov, Richard White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M. Laricchia, Cristina Venturini, Bas Vroling, Sarah L. Stenton, Beryl B. Cummings, Elizabeth Harris, Chiara Marini‐Bettolo, Jordi Díaz‐Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina England, Jane Patrick, Sundos Al-Husayni, Valérie Biancalana, Alan H. Beggs, István Bódi, Shobhana Bommireddipalli, Carsten G. Bönnemann, Anita Cairns, Mei-Ting Chiew, Kristl G. Claeys, Sandra T. Cooper, Mark R. Davis, Sandra Donkervoort, Corrie E. Erasmus, Mahmoud R. Fassad, Casie A. Genetti, Carla Grosmann, Heinz Jungbluth, Erik‐Jan Kamsteeg, Xavière Lornage, Wolfgang N. Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana Mongini, Nuria Muelas, Atsuko Nishikawa, Anne O’Donnell‐Luria, Narumi Ogonuki, Gina O’Grady, Emily O’Heir, Stéphanie Paquay, Rahul Phadke, Beth A. Pletcher, Norma B. Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W. Taylor, Allysa Tuite, Peter Van den Bergh, Grace E. VanNoy, Nicol C. Voermans, Julia Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C. Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan J. Vílchez, Daniel G. MacArthur, Anna Sárközy, Heather J. Cordell, Bjarne Udd, Elisabeth M. Busch‐Nentwich, Francesco Muntoni, Volker Straub

    Хэвлэсэн 2024
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  14. 14
    Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

    Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules -н Daniel O Dodd, Sabrina Méchaussier, Patricia L. Yeyati, Fraser McPhie, Jacob R. Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh Kumar Gupta, Thomas Attard, Maimoona A. Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Mahmoud R. Fassad, David Parry, Peter Tennant, Alison Meynert, Gabrielle Wheway, Lucas Fares‐Taie, Holly A. Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali Patel, Lisa McKie, Roly Megaw, Christos Gatsogiannis, Mai A. Mohamed, Stuart Aitken, Philippe Gautier, Finn R. Reinholt, Robert A. Hirst, Chris O’Callaghan, Ketil Heimdal, Mathieu Bottier, Estelle Escudier, Suzanne Crowley, Maria Descartes, Ethylin Wang Jabs, Priti Kenia, Jeanne Amiel, Giacomo Maria Bacci, Claudia Calogero, Viviana Palazzo, Lucia Tiberi, Ulrike Blümlein, Andrew V. Rogers, Jennifer Wambach, D.J. Wegner, Anne B. Fulton, Margaret A. Kenna, Margaret Rosenfeld, Ingrid A. Holm, Alan J. Quigley, Emma A. Hall, Laura C. Murphy, Diane Cassidy, Alex von Kriegsheim, Jean‐François Papon, Laurent Pasquier, Marlène Murris, James D. Chalmers, Claire Hogg, Kenneth Macleod, Don S. Urquhart, Stefan Unger, Timothy J. Aitman, Serge Amselem, Margaret W. Leigh, Michael R. Knowles, Heymut Omran, Hannah M. Mitchison, Alan Brown, Joseph A. Marsh, Julie P. I. Welburn, Shih-Chieh Ti, Amjad Horani, Jean‐Michel Rozet, Isabelle Perrault, Pleasantine Mill

    Хэвлэсэн 2024
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:

Хайх хэрэгслүүд: