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Human Mutation|October 15, 2008
Molecular investigations to improve diagnostic accuracy in patients with ARC syndromeAndrew R Cullinane, Anna Straatman-Iwanowska, Jeong K Seo, et al.
American Journal of Medical Genetics. Part A|June 3, 2025
Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish IndividualsEnise Avci Durmusalioglu, Esra Isik, Turkan Turkut Tan, et al.
The Journal of Clinical Endocrinology and Metabolism|May 5, 2016
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From TurkeyBaris Akinci, Huseyin Onay, Tevfik Demir, et al.
Pediatric Neurology|December 3, 2014
Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutationsAhmet Okay Caglayan, Jacob F Baranoski, Fesih Aktar, et al.
Human Molecular Genetics|March 27, 2009
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survivalVishwanathan Hucthagowder, Eva Morava, Uwe Kornak, et al.
Molecular Genetics and Metabolism|September 17, 2013
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxaAikaterini Dimopoulou, Björn Fischer, Thatjana Gardeitchik, et al.
Brain : a Journal of Neurology|April 14, 2020
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathyNicolas Chatron, Felicitas Becker, Heba Morsy, et al.
The Journal of Clinical Investigation|January 12, 2016
Molecular etiology of arthrogryposis in multiple families of mostly Turkish originYavuz Bayram, Ender Karaca, Zeynep Coban Akdemir, et al.
Human Genetics|June 23, 2021
Genome sequencing in families with congenital limb malformationsJonas Elsner, Martin A Mensah, Manuel Holtgrewe, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individualsNuria Garcia Segarra, Laureane Mittaz, Ana Belinda Campos-Xavier, et al.
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