Patient demographics, clinical characteristics and genetic mutations of DMD and BMD patients in Qatar Epidemiological and genetic profile of Duchenne muscular dystrophy and Becker... by Mohammad Sawahreh, Fatima Al-Maadid, Khalid Omer Ibrahim, Tawfeg Ben Omran, Mahmoud Fawzi Osman

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The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region by Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi

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De novo missense variants in CHTF18: The potential to expand the clinical spectrum of cohesinopathies by Erfan Aref-Eshghi, Ingrid M. Wentzensen, Tawfeg Ben-Omran, Reem Ibrahim Bux, Nina B. Gold, Erin McRoy, Hoanh Nguyen, Lauren O’Grady, Shao Ching Tu, Yanmin Chen, Leandra Folk, Bobbi McGivern

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Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum by Brigitte Fauroux, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Silvio Boero, Mieke Boon, Valérie Cormier-Daire, Svein Fredwall, Encarna Guillen-Navarro, Melita Irving, Philip Kunkel, Núria Madureira, Mohamad Maghnie, Josef Milerad, Klaus Mohnike, Geert Mortier, Lino Nobili, Zagorka Pejin, Marco Sessa, Sérgio B. Sousa

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Qatar’s genetic counseling landscape: Current insights and future prospects by Sumaya Abiib, Houssein Khodjet-El-khil, Karen El-Akouri, Reem Ibrahim Bux, Zoulikha Rezoug, Wafa Abualainin, Moza Alkowari, Sara Osman Musa, Mariam Al Mulla, Rehab Al Saleh, Noora Shahbeck, Maria Farag, Said I. Ismail, Reem Al Sulaiman, Tawfeg Ben-Omran, Asma Al-Thani, Mashael Al-Shafai

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