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Pediatric Cardiology|August 2, 2022
Cardiac Assessment in Children with MIS-C: Late Magnetic Resonance Imaging FeaturesSema Yildirim Arslan, Zumrut Sahbudak Bal, Selen Bayraktaroglu, et al.
Orphanet Journal of Rare Diseases|October 1, 2015
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndromeTahir Atik, Asuman Koparir, Guney Bademci, et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis|August 1, 2025
Genetic and clinical characterization of factor VII deficiency: insights from 34 Turkish patientsTahir Atik, Basak Durmus Ozen, Esra Isik, et al.
Mycopathologia|December 18, 2025
CARD9 Mutations in Patients with Invasive Fungal InfectionsGizem Guner Ozenen, Enise Avci Durmusalioglu, Durdugul Ayyildiz Emecen, et al.
American Journal of Human Genetics|January 4, 2011
SMOC1 is essential for ocular and limb development in humans and miceIppei Okada, Haruka Hamanoue, Koji Terada, et al.
Human Genetics|January 26, 2017
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypesIlaria Parenti, María E Teresa-Rodrigo, Jelena Pozojevic, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 13, 2022
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposisFelix Boschann, Muhsin Ö Cogulu, Davut Pehlivan, et al.
International Journal of Pediatric Otorhinolaryngology|October 2, 2017
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohortFiliz Basak Cengiz, Rasim Yilmazer, Levent Olgun, et al.
European Journal of Haematology|March 31, 2024
Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysisEsra Isik, Yesim Aydinok, Canan Albayrak, et al.
Plos Genetics|July 14, 2011
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and miceJoe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, et al.
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