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	1.	Screening for the mitochondrial A1555G mutation among Egyptian patients with non-syndromic, sensorineural hearing loss. [electronic resource] by Fassad, Mahmoud R Desouky, Lubna M Asal, Samir Abdalla, Ebtesam M Producer: 20150310 In: International journal of molecular epidemiology and genetics vol. 5 Availability: No items available. Save to lists Add to cart (remove)
	2.	Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School. [electronic resource] by Farley, Hannah Rubbo, Bruna Bukowy-Bieryllo, Zuzanna Fassad, Mahmoud Goutaki, Myrofora Harman, Katharine Hogg, Claire Kuehni, Claudia E Lopes, Susana Nielsen, Kim G Norris, Dominic P Reula, Ana Rumman, Nisreen Shoemark, Amelia Wilkins, Hannah Wisse, Agatha Lucas, Jane S Marthin, June K Publication details: BMC proceedings 2018 In: BMC proceedings vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. [electronic resource] by Fassad, Mahmoud R Shoemark, Amelia le Borgne, Pierrick Koll, France Patel, Mitali Dixon, Mellisa Hayward, Jane Richardson, Charlotte Frost, Emily Jenkins, Lucy Cullup, Thomas Chung, Eddie M K Lemullois, Michel Aubusson-Fleury, Anne Hogg, Claire Mitchell, David R Tassin, Anne-Marie Mitchison, Hannah M Producer: 20181211 In: American journal of human genetics vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus. [electronic resource] by Fassad, Mahmoud R Shoemark, Amelia Legendre, Marie Hirst, Robert A Koll, France le Borgne, Pierrick Louis, Bruno Daudvohra, Farheen Patel, Mitali P Thomas, Lucie Dixon, Mellisa Burgoyne, Thomas Hayes, Joseph Nicholson, Andrew G Cullup, Thomas Jenkins, Lucy Carr, Siobhán B Aurora, Paul Lemullois, Michel Aubusson-Fleury, Anne Papon, Jean-François O'Callaghan, Christopher Amselem, Serge Hogg, Claire Escudier, Estelle Tassin, Anne-Marie Mitchison, Hannah M Producer: 20190514 In: American journal of human genetics vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia. [electronic resource] by Best, Sunayna Shoemark, Amelia Rubbo, Bruna Patel, Mitali P Fassad, Mahmoud R Dixon, Mellisa Rogers, Andrew V Hirst, Robert A Rutman, Andrew Ollosson, Sarah Jackson, Claire L Goggin, Patricia Thomas, Simon Pengelly, Reuben Cullup, Thomas Pissaridou, Eleni Hayward, Jane Onoufriadis, Alexandros O'Callaghan, Christopher Loebinger, Michael R Wilson, Robert Chung, Eddie Mk Kenia, Priti Doughty, Victoria L Carvalho, Julene S Lucas, Jane S Mitchison, Hannah M Hogg, Claire Producer: 20190506 In: Thorax vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort. [electronic resource] by Fassad, Mahmoud R Patel, Mitali P Shoemark, Amelia Cullup, Thomas Hayward, Jane Dixon, Mellisa Rogers, Andrew V Ollosson, Sarah Jackson, Claire Goggin, Patricia Hirst, Robert A Rutman, Andrew Thompson, James Jenkins, Lucy Aurora, Paul Moya, Eduardo Chetcuti, Philip O'Callaghan, Chris Morris-Rosendahl, Deborah J Watson, Christopher M Wilson, Robert Carr, Siobhan Walker, Woolf Pitno, Andreia Lopes, Susana Morsy, Heba Shoman, Walaa Pereira, Luisa Constant, Carolina Loebinger, Michael R Chung, Eddie M K Kenia, Priti Rumman, Nisreen Fasseeh, Nader Lucas, Jane S Hogg, Claire Mitchison, Hannah M Producer: 20210611 In: Journal of medical genetics vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	High prevalence of [electronic resource] by Shoemark, Amelia Moya, Eduardo Hirst, Robert A Patel, Mitali P Robson, Evelyn A Hayward, Jane Scully, Juliet Fassad, Mahmoud R Lamb, William Schmidts, Miriam Dixon, Mellisa Patel-King, Ramila S Rogers, Andrew V Rutman, Andrew Jackson, Claire L Goggin, Patricia Rubbo, Bruna Ollosson, Sarah Carr, Siobhán Walker, Woolf Adler, Beryl Loebinger, Michael R Wilson, Robert Bush, Andrew Williams, Hywel Boustred, Christopher Jenkins, Lucy Sheridan, Eamonn Chung, Eddie M K Watson, Christopher M Cullup, Thomas Lucas, Jane S Kenia, Priti O'Callaghan, Christopher King, Stephen M Hogg, Claire Mitchison, Hannah M Producer: 20181022 In: Thorax vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. [electronic resource] by Olcese, Chiara Patel, Mitali P Shoemark, Amelia Kiviluoto, Santeri Legendre, Marie Williams, Hywel J Vaughan, Cara K Hayward, Jane Goldenberg, Alice Emes, Richard D Munye, Mustafa M Dyer, Laura Cahill, Thomas Bevillard, Jeremy Gehrig, Corinne Guipponi, Michel Chantot, Sandra Duquesnoy, Philippe Thomas, Lucie Jeanson, Ludovic Copin, Bruno Tamalet, Aline Thauvin-Robinet, Christel Papon, Jean-François Garin, Antoine Pin, Isabelle Vera, Gabriella Aurora, Paul Fassad, Mahmoud R Jenkins, Lucy Boustred, Christopher Cullup, Thomas Dixon, Mellisa Onoufriadis, Alexandros Bush, Andrew Chung, Eddie M K Antonarakis, Stylianos E Loebinger, Michael R Wilson, Robert Armengot, Miguel Escudier, Estelle Hogg, Claire Amselem, Serge Sun, Zhaoxia Bartoloni, Lucia Blouin, Jean-Louis Mitchison, Hannah M Producer: 20181114 In: Nature communications vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Expanding the phenome and variome of skeletal dysplasia. [electronic resource] by Maddirevula, Sateesh Alsahli, Saud Alhabeeb, Lamees Patel, Nisha Alzahrani, Fatema Shamseldin, Hanan E Anazi, Shams Ewida, Nour Alsaif, Hessa S Mohamed, Jawahir Y Alazami, Anas M Ibrahim, Niema Abdulwahab, Firdous Hashem, Mais Abouelhoda, Mohamed Monies, Dorota Al Tassan, Nada Alshammari, Muneera Alsagheir, Afaf Seidahmed, Mohammed Zain Sogati, Samira Aglan, Mona S Hamad, Muddathir H Salih, Mustafa A Hamed, Ahlam A Alhashmi, Nadia Nabil, Amira Alfadli, Fatima Abdel-Salam, Ghada M H Alkuraya, Hisham Peitee, Winnie Ong Keng, W T Qasem, Abdullah Mushiba, Aziza M Zaki, Maha S Fassad, Mahmoud R Alfadhel, Majid Alexander, Saji Sabr, Yasser Temtamy, Samia Ekbote, Alka V Ismail, Samira Hosny, Gamal Ahmed Otaify, Ghada A Amr, Khalda Al Tala, Saeed Khan, Arif O Rizk, Tamer Alaqeel, Aida Alsiddiky, Abdulmonem Singh, Ankur Kapoor, Seema Alhashem, Amal Faqeih, Eissa Shaheen, Ranad Alkuraya, Fowzan S Producer: 20190514 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)