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| 33098347 | Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. | Am J Med Genet A | 2021 |
| 34582790 | High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. | Am J Hum Genet | 2021 |
| 31735666 | Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly. | Dev Cell | 2019 |
| 25626054 | Prenatal diagnosis and outcome of lymphangiomas and its relationship with fetal chromosomal abnormalities. | J Matern Fetal Neonatal Med | 2016 |
| 27638328 | A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus. | Eur J Med Genet | 2016 |
| 27192891 | 22.5 MB DELETION OF 13q31.1-q34 ASSOCIATED WITH HPE, DWM, AND HSCR: A CASE REPORT AND REDEFINING THE SMALLEST DELETED REGIONS. | Genet Couns | 2016 |
| 27511516 | Evaluation of maternal serum folate, vitamin B12, and homocysteine levels andfactor V Leiden, factor II g.20210G>A, and MTHFR variations in prenatallydiagnosed neural tube defects. | Turk J Med Sci | 2016 |
| 27018927 | Evaluation of Factor V Leiden, Prothrombin G20210A, MTHFR C677T and MTHFR A1298C gene polymorphisms in retinopathy of prematurity in a Turkish cohort. | Ophthalmic Genet | 2016 |
| 27012487 | A rare case of rhombencephalosynapsis and prenatal diagnosis. | J Obstet Gynaecol | 2016 |
| 27101134 | Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. | Genet Med | 2016 |
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| 25153220 | Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report. | J Pediatr Endocrinol Metab | 2015 |
| 26625673 | AGENESIS OF THE DUCTUS VENOSUS--A CASE WITH NOONAN SYNDROME. | Genet Couns | 2015 |
| 26625671 | FOUR CASES OF SIRENOMELIA WITH DIFFERENT MANIFESTATION. | Genet Couns | 2015 |
| 26539891 | Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. | Neuron | 2015 |
| 26349202 | PRENATAL DIAGNOSIS OF ISOLATED SCOLIOSIS WITH DOWN SYNDROME. | Genet Couns | 2015 |
| 26349187 | MICROARRAY DELINEATION OF DE NOVO DUPLICATION 1q32q42 IN A CHILD SHOWING MULTIPLE ANOMALIES AND DYSMORPHISM. | Genet Couns | 2015 |
| 26852509 | CLINICAL REPORT OF A PATIENT WITH DE NOVO TRISOMY 12q23.1q24.33. | Genet Couns | 2015 |
| 26043511 | Concomitant omphalocele, anencephaly and arthrogryposis associated with trisomy 18. | Genet Couns | 2015 |
| 26043508 | The deletion 22q13 syndrome: a new case. | Genet Couns | 2015 |
| 25846457 | Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. | Am J Med Genet A | 2015 |
| 25868129 | DNA damage is increased in lymphocytes of patients with metabolic syndrome. | Mutat Res Genet Toxicol Environ Mutagen | 2015 |
| 25796308 | Methylenetetrahydrofolate Reductase gene polymorphism in children with allergic rhinitis. | Allergol Immunopathol (Madr) | 2015 |
| 25574841 | Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. | J Clin Invest | 2015 |
| 24424126 | Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia. | Eur J Hum Genet | 2014 |
| 25804019 | A patient with duplication (7)(p15.3p22.3) and deletion (7)(p22.3pter) characterized by array-CGH. | Genet Couns | 2014 |
| 25445102 | Prevalence of X-aneuploidies, X-structural abnormalities and 46,XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency. | Eur J Obstet Gynecol Reprod Biol | 2014 |
| 25059025 | Craniorachischisis, gastroschisis, and a branchial sinus defect: a case report. | Genet Couns | 2014 |
| 24300288 | A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome. | Clin Dysmorphol | 2014 |
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| 24052734 | The Impact of the D727E Polymorphism has no Significant Role in Multi Nodular Goiter. | Balkan J Med Genet | 2012 |
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| 21614983 | A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome. | Genet Couns | 2011 |
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