The genomic and clinical landscape of fetal akinesia von Pergande, Matthias, Motameny, Susanne, Özdemir, Özkan, Kreutzer, Mona, Wang, Haicui, Daimagüler, Hülya-Sevcan, Becker, Kerstin, Karakaya, Mert, Ehrhardt, Harald, Elcioglu, Nursel, Ostojic, Slavica, Chao, Cho-Ming, Kawalia, Amit, Duman, Özgür, Koy, Anne, Hahn, Andreas, Reimann, Jens, Schoner, Katharina, Schänzer, Anne, Westhoff, Jens H., Schwaibold, Eva Maria Christina, Cossee, Mireille, Imbert-Bouteille, Marion, von Pein, Harald, Haliloglu, Göknur, Topaloglu, Haluk, Altmüller, Janine, Nürnberg, Peter, Thiele, Holger, Heller, Raoul, Cirak, Sebahattin

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Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis von Naumann, Marcel, Peikert, Kevin, Günther, Rene, Kooi, Anneke J., Aronica, Eleonora, Hübers, Annemarie, Danel, Veronique, Corcia, Philippe, Pan‐Montojo, Francisco, Cirak, Sebahattin, Haliloglu, Göknur, Ludolph, Albert C., Goswami, Anand, Andersen, Peter M., Prudlo, Johannes, Wegner, Florian, Van Damme, Philip, Weishaupt, Jochen H., Hermann, Andreas

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Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder von Yildiz, Yilmaz, Gocmen, Rahsan, Yaramis, Ahmet, Coskun, Turgay, Haliloglu, Goknur

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SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy von Agrawal, Pankaj B., Pierson, Christopher R., Joshi, Mugdha, Liu, Xiaoli, Ravenscroft, Gianina, Moghadaszadeh, Behzad, Talabere, Tiffany, Viola, Marissa, Swanson, Lindsay C., Haliloğlu, Göknur, Talim, Beril, Yau, Kyle S., Allcock, Richard J.N., Laing, Nigel G., Perrella, Mark A., Beggs, Alan H.

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Correction: The genomic and clinical landscape of fetal akinesia von Pergande, Matthias, Motameny, Susanne, Özdemir, Özkan, Kreutzer, Mona, Wang, Haicui, Daimagüler, Hülya-Sevcan, Becker, Kerstin, Karakaya, Mert, Ehrhardt, Harald, Elcioglu, Nursel, Ostojic, Slavica, Chao, Cho-Ming, Kawalia, Amit, Duman, Özgür, Koy, Anne, Hahn, Andreas, Reimann, Jens, Schoner, Katharina, Schänzer, Anne, Westhoff, Jens H., Schwaibold, Eva Maria Christina, Cossee, Mireille, Imbert-Bouteille, Marion, von Pein, Harald, Haliloglu, Göknur, Topaloglu, Haluk, Altmüller, Janine, Nürnberg, Peter, Thiele, Holger, Heller, Raoul, Cirak, Sebahattin

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Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II) von Kılıç, Esra, Utine, Eda, Ünal, Şule, Haliloğlu, Göknur, Oğuz, Kader Karli, Çetin, Mualla, Boduroğlu, Koray, Alanay, Yasemin

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Developmental parameters and physical fitness in preschool children with Minor Neurological Dysfunction von Alkan, Halil, Mutlu, Akmer, Haliloglu, Goknur

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Risk factors for seizure recurrence in a pediatric observation unit von Gultekingil, Ayse, Teksam, Ozlem, Haliloglu, Goknur, Yalnizoglu, Dilek

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Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision von Forny, Patrick, Hörster, Friederike, Ballhausen, Diana, Chakrapani, Anupam, Chapman, Kimberly A., Dionisi‐Vici, Carlo, Dixon, Marjorie, Grünert, Sarah C., Grunewald, Stephanie, Haliloglu, Goknur, Hochuli, Michel, Honzik, Tomas, Karall, Daniela, Martinelli, Diego, Molema, Femke, Sass, Jörn Oliver, Scholl‐Bürgi, Sabine, Tal, Galit, Williams, Monique, Huemer, Martina, Baumgartner, Matthias R.

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Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia von Baumgartner, Matthias R, Hörster, Friederike, Dionisi-Vici, Carlo, Haliloglu, Goknur, Karall, Daniela, Chapman, Kimberly A, Huemer, Martina, Hochuli, Michel, Assoun, Murielle, Ballhausen, Diana, Burlina, Alberto, Fowler, Brian, Grünert, Sarah C, Grünewald, Stephanie, Honzik, Tomas, Merinero, Begoña, Pérez-Cerdá, Celia, Scholl-Bürgi, Sabine, Skovby, Flemming, Wijburg, Frits, MacDonald, Anita, Martinelli, Diego, Sass, Jörn Oliver, Valayannopoulos, Vassili, Chakrapani, Anupam

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Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects von Haliloglu, Goknur, Becker, Kerstin, Temucin, Cagri, Talim, Beril, Küçükşahin, Nalan, Pergande, Matthias, Motameny, Susanne, Nürnberg, Peter, Aydingoz, Ustun, Topaloglu, Haluk, Cirak, Sebahattin

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Further expanding the phenotype of anti-Ku antibody associated disease in children and adolescents von Batu, Ezgi Deniz, Şener, Seher, Haliloğlu, Göknur, Talim, Beril, Şener, Burçin, Şahiner, Ümit Murat, Bilginer, Yelda, Orhan, Diclehan, Aydıngöz, Üstün, Özen, Seza

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Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights von Yiş, Uluç, Becker, Kerstin, Kurul, Semra Hız, Uyanik, Gökhan, Bayram, Erhan, Haliloğlu, Göknur, Polat, Ayşe İpek, Ayanoğlu, Müge, Okur, Derya, Tosun, Ayşe Fahriye, Serdaroğlu, Gül, Yilmaz, Sanem, Topaloğlu, Haluk, Anlar, Banu, Cirak, Sebahattin, Engel, Andrew G.

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Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy o... von Haliloglu, Goknur, Topaloglu, Haluk

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Niemann-Pick disease type C in the newborn period: a single-center experience von Gumus, Ersin, Haliloglu, Goknur, Karhan, Asuman Nur, Demir, Hulya, Gurakan, Figen, Topcu, Meral, Yuce, Aysel

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A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and Atrophy von Utine, G. Eda, Haliloğlu, Göknur, Salancı, Bilge, Çetinkaya, Arda, Kiper, P. Özlem, Alanay, Yasemin, Aktaş, Dilek, Boduroğlu, Koray, Alikaşifoğlu, Mehmet

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Evaluation of changes in physician behavior after introduction of pediatric syncope approach protocol in the emergency department von Akcan Yildiz, Leman, Haliloglu, Goknur, Yalnizoglu, Dilek, Ertugrul, Ilker, Alehan, Dursun, Teksam, Ozlem

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Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency von Yıldız, Yılmaz, Ardıçlı, Didem, Göçmen, Rahşan, Yalnızoğlu, Dilek, Topçu, Meral, Coşkun, Turgay, Tokatlı, Ayşegül, Haliloğlu, Göknur

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Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey von Ersak, Ayşe Şenol, Çak, Halime Tuna, Yıldız, Yılmaz, Çavdar, Merve Kaşıkcı, Tunç, Sıla, Özer, Nagihan, Zeltner, Nina A., Huemer, Martina, Tokatlı, Ayşegül, Haliloğlu, Göknur

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Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth von Todd, Emily J, Yau, Kyle S, Ong, Royston, Slee, Jennie, McGillivray, George, Barnett, Christopher P, Haliloglu, Goknur, Talim, Beril, Akcoren, Zuhal, Kariminejad, Ariana, Cairns, Anita, Clarke, Nigel F, Freckmann, Mary-Louise, Romero, Norma B, Williams, Denise, Sewry, Caroline A, Colley, Alison, Ryan, Monique M, Kiraly-Borri, Cathy, Sivadorai, Padma, Allcock, Richard J N, Beeson, David, Maxwell, Susan, Davis, Mark R, Laing, Nigel G, Ravenscroft, Gianina

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