Development of end-stage renal disease at a young age in two cases with Joubert syndrome by Ferah Sönmez, Melike Güzünler-Şen, Dilek Yılmaz, Gamze Cömertpay, Marisol Heise, Sebahattin Çırak, Gökhan Uyanık

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Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle. by Martin Brockington, Silvia Torelli, Paul S Sharp, Ke Liu, Sebahattin Cirak, Susan C Brown, Dominic J Wells, Francesco Muntoni

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Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia by Derya Okur, Hülya Sevcan Daimagüler, Ayça Ersen Danyeli, Hasan Tekgül, Haicui Wang, Gilbert Wunderlich, Sebahattin Çırak, Uluç Yiş

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Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2 by Uluç Yiş, Vishal Dixit, Sedat Işıkay, Mert Karakaya, Figen Baydan, Gülden Diniz, İpek Polat, Semra Hız-Kurul, Sebahattin Çırak

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Shorter Intervals of Antenatal Corticosteroid Administration Can Influence Short- and Long-Term Outcomes in Premature Infants by Katrina Kraft, Lisa Schiefele, Jochen Essers, Miriam Deniz, Arkadius Polasik, Petra Schlanstedt, Harald Bode, Sebahattin Cirak, Thomas W.P. Friedl, Wolfgang Janni, Beate Hüner

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Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy. by Irina T Zaharieva, Mattia Calissano, Mariacristina Scoto, Mark Preston, Sebahattin Cirak, Lucy Feng, James Collins, Ryszard Kole, Michela Guglieri, Volker Straub, Kate Bushby, Alessandra Ferlini, Jennifer E Morgan, Francesco Muntoni

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Characterisation and validation of insertions and deletions in 173 patient exomes. by Francesco Lescai, Silvia Bonfiglio, Chiara Bacchelli, Estelle Chanudet, Aoife Waters, Sanjay M Sisodiya, Dalia Kasperavičiūtė, Julie Williams, Denise Harold, John Hardy, Robert Kleta, Sebahattin Cirak, Richard Williams, John C Achermann, John Anderson, David Kelsell, Tom Vulliamy, Henry Houlden, Nicholas Wood, Una Sheerin, Gian Paolo Tonini, Donna Mackay, Khalid Hussain, Jane Sowden, Veronica Kinsler, Justyna Osinska, Tony Brooks, Mike Hubank, Philip Beales, Elia Stupka

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