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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Disease and RSPH9[original query]
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.
Human molecular genetics 2014 Jul 23 (13): 3362-74.
Onoufriadis Alexandros, Shoemark Amelia, Schmidts Miriam, Patel Mitali, Jimenez Gina, Liu Hui, Thomas Biju, Dixon Mellisa, Hirst Robert A, Rutman Andrew, Burgoyne Thomas, Williams Christopher, Scully Juliet, Bolard Florence, Lafitte Jean-Jacques, Beales Philip L, Hogg Claire, Yang Pinfen, Chung Eddie M K, Emes Richard D, O'Callaghan Christopher, , Bouvagnet Patrice, Mitchison Hannah
Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experience.
International journal of pediatrics & adolescent medicine 2021 8 8 (4): 258-263.
Alzaid Mohammed, Al-Mobaireek Khalid, Almannai Mohammed, Mukhtar Gawahir, Eltahir Safa, Zafar Adnan, Zada Abdulali P, Alotaibi Wad
Implementation of multigene panel NGS diagnosis in the national primary ciliary dyskinesia cohort of Cyprus: An island with a high disease prevalence.
Human mutation 2021 Mar .
Yiallouros Panayiotis K, Kouis Panayiotis, Kyriacou Kyriacos, Evriviadou Aigli, Anagnostopoulou Pinelopi, Matthaiou Andreas, Tsiolakis Ioannis, Pirpa Panayiota, Michailidou Kyriaki, Potamiti Louiza, Loizidou Maria A, Hadjisavvas Andre
Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients.
Journal of human genetics 2022 Jan .
Mabrouk Imed, Al-Harthi Nawal, Mani Rahma, Montantin Guy, Tissier Sylvie, Lagha Rihab, Ben Abdallah Fethi, Hassan Mohamad M, Alhomrani Majid, Gaber Ahmed, Alsanie Walaa F, Ouali Hanadi, Jambi Fatma A, Almaghamsi Talal M, Alqarni Nawal A, Alfarsi Nawaf A, Kashgari Khadija, Al-Zahrani Hasna J, Al-Shamary Zamel A, Al-Harbi Abdullah, Amselem Serge, Escudier Estelle, Legendre Mar
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