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Molecular Syndromology|August 7, 2025
Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from TurkiyeFirdevs Dinçsoy Bir, Zehra Oya Uyguner, Birsen Karaman, et al.The Tohoku Journal of Experimental Medicine|March 10, 2007
Detection of Y chromosomal material in patients with a 45,X karyotype by PCR methodC Nur Semerci, N Lale Satiroglu-Tufan, Serap Turan, et al.Acta Cardiologica|November 19, 2008
Congenital heart disease in children with Down's syndrome: Turkish experience of 13 yearsKemal Nisli, Naci Oner, Sukru Candan, et al.Genes|December 23, 2022
Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal AnomaliesSeher Basaran, Recep Has, Ibrahim Halil Kalelioglu, et al.Journal of Genetics and Genomics = Yi Chuan Xue Bao|April 21, 2009
Mutational screening of BASP1 and transcribed processed pseudogene TPPsig-BASP1 in patients with Möbius syndromeAbdullah Uzumcu, Sukru Candan, Guven Toksoy, et al.Hormone Research in Paediatrics|November 21, 2025
Olfactory Receptor Gene Deletions: A Novel Genetic Findings in Idiopathic Prepubertal Gynecomastia and Juvenile MacromastiaFirdevs Bas, Birsen Karaman, Asli Derya Kardelen, et al.American Journal of Medical Genetics. Part A|November 18, 2022
Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, TurkeyTugba Kalayci, Umut Altunoglu, Aytul Çorbacioglu Esmer, et al.Clinical Genetics|January 23, 2022
Functional loss of ubiquitin-specific protease 14 may lead to a novel distal arthrogryposis phenotypeGozde Tutku Turgut, Umut Altunoglu, Tugba Sarac Sivrikoz, et al.Prenatal Diagnosis|February 18, 2026
Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical AnomaliesVolkan Karaman, Ayça Dilruba Aslanger, Tuğba Saraç Sivrikoz, et al.Journal of Clinical Research in Pediatric Endocrinology|February 9, 2022
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSDNeşe Akcan, Oya Uyguner, Firdevs Baş, et al.Pageof 6