Developmental parameters and physical fitness in preschool children with Minor Neurological Dysfunction by Halil Alkan, Akmer Mutlu, Göknur Haliloğlu

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Benign monomelic amyotrophy in a 7-year-old girl with proximal upper limb involvement: case report by Oznur Yilmaz, Ipek Alemdaroğlu, Ayşe Karaduman, Göknur Haliloğlu, Haluk Topaloğlu

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Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosis by Anil Apak, Göknur Haliloğlu, Gülşen Köse, Engin Yilmaz, Banu Anlar, Sabiha Aysun

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Mycoplasma pneumoniae-associated transverse myelitis with unexpected rapid response to macrolide therapy: a case report by Hasan Tezer, Ateş Kara, Göknur Haliloğlu, Ilker Devrim, Kader Karli-Oğuz, Deniz Sül

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When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center by Göknur Haliloğlu, Emine Vezir, Leyla Baydar, Saniye Onol, Serap Sivri, Turgay Coşkun, Meral Topçu

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Conventional and advanced MR imaging in infantile Refsum disease by Mustafa Kılıç, Kader Karlı-Oğuz, Göknur Haliloğlu, Meral Topçu, Ronald James Wanders, Turgay Coşkun

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Clinical and molecular evaluation of 16 patients with Rett syndrome by Pınar Zengin-Akkuş, Ekim Z Taşkıran, Serkan Kabaçam, Pelin Özlem Şimşek-Kiper, Göknur Haliloğlu, Koray Boduroğlu, Gülen Eda Utine

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3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures by Turgay Coşkun, Halil Ibrahim Aydin, Mustafa Kiliç, Ali Dursun, Göknur Haliloğlu, Haluk Topaloğlu, Kader Karli-Oğuz, Tom J De Koning

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Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases by Sarah L. Stenton, Kristen Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia, Ikeoluwa Osei-Owusu, Lynn Pais, Emily O’Heir, Christina Austin-Tse, Melanie O’Leary, Mayada Abu Shanap, Chelsea Barrows, Seth Berger, Carsten G. Bönnemann, Kinga M. Bujakowska, Dean R. Campagna, Alison G. Compton, Sandra Donkervoort, Mark D. Fleming, Lyndon Gallacher, Joseph G. Gleeson, Goknur Haliloglu, Eric A. Pierce, Emily M. Place, Vijay G. Sankaran, Akiko Shimamura, Zornitza Stark, Tiong Yang Tan, David R. Thorburn, Susan M. White, Maha S. Zaki, Eric Vilain, Monkol Lek, Heidi L. Rehm, Anne O’Donnell-Luria

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