- Say B, Gungor, E. Durmus Z. The Incidence of Twin Births in Turkey. Turk J Pediatr 1967;9:32-36
 - Say B, Gungor E. Durmus Z. Twin Births in Turkey. Lancet 1967;1:52
 - Tuncbilek E, Ozsoylu S. Sweat Chloride Concentrations in Rickets. Turk J Pediatr 1967;9:96-99.
 - Say B, Balci S, Tuncbilek E, Pinar T. Infantile Thoracic Dystrophy. Turk J Pediatr 1969;11:120-126.
 - Tuncbilek E. Chromosome and Sex Chromatin Studies yof Patients With Hypospadias. Tuark J Pediatr 1969; 11:141.
 - Say B, Tuncbilek E. Yamak B, Balci S. Case Report: An Unusual Chromosomal Aberration in a Case of Chediak Higashi Syndrome. J Med. Genet. 1970;7:417-421.
 - Say B, Tuncbilek E. Pinar T, Tokgozoglu N. Hereditary Congenital Coxa Vara With Dominant Inheritance. Humangenetik 1971;11:266-268.
 - Say B, Balci S, Pinar T, Tuncbilek. E, A New Syndrome of Dysmorphogenesis. Imperforate Anus Associated With Poly/oligodactyly and Skeletal (Mainly Vertebral) Anormalies. Acta Paediat Scand 1971:60:197-202. 
- Tuncbilek E, Balci S, Say B, Turner�s and Stein_Leventhal�s Syndrome in Two Sisters. Turk J Pediatr 1971;13:91-96.
 - Say B, Balci S. Tuncbilek E. 45,X0 Turner�s Syndrome, Wilm�s Tumor and Imperforate Anus. Humangenetik 1971;348-350.
 - Tuncbilek E, Balci S, Say B, Tinaztepe K. 13-15 (D1) Trisomy Syndrome. Turk J Pediatr 1971;13:112-124.
 - Halicioglu CB, Tuncbilek E,  Say B. Giemsa Banding in the D Trisomy Syndrome.Humangenetki 1972;15:285-286.
 - Tuncbilek E, Say B, Atasu M. Dermatoglyphic in Trisomy 8. Lancet II 1972;821.
 - Atasu M, Balci S, Tuncbilek E. Dermatoglyphic Findings in Laurence-Moon-Biedl Syndrome. Lancet 1973;11:98-99.
 - Say B, Tuncbilek E, Balci S, Muluk Z, Gogus T, Saraclar M,Kocal C.Incidence of Congenital Malformation in a Sample of the Turkish Population. Human Heredity 1973;23:434-441.
 - Say B, Tuncbilek E. A Familial Syndrome of Unusal Facies Associated with Maloccluson and Short Stature, Humangenetik 1973;18:279-282.
 - Tuncbilek E, Turun R, Say B. Lactose in Turkey. Lancet 1973;11:151
 - Tuncbilek E, Halicioglu C, Say B. Trisomy 8 Syndrome Humangenetik 1974:23:23-29.
 - Altay C, Tuncbilek E. Ozsoylu S. Hemophilia A in a Phenotypically Normal Female with 45,XO/46,X,r (X) Mosaicism. Excerpta Medica International Congress Series  Haemophilia 1974;356:176-180.
 - Altay C, Say B, Tuncbilek E. Freguency of Red Cell Adenosine Deaminase and 6- Phosphogluconate Dehydrogenase in a Sample of the Turkish Population. Human Hum. Hered 1974;24:306-308.
 - Tuncbilek  E, Caglar M, Saatci U, Caver H, Kale G, Erol İ. Gastrointestinal Symptoms in Polyarteritis Nodosa. Turk J Pediatr 1975;17:57-64.
- Tuncbilek E. Halicioglu C, Bobrow M, Ustay K. 45,XO/46,Xyqdic Masaicisim in a Patient with Ambiguous Genitalia. Clin Genet 1976;9:365-370.
 - Tuncbilek E. A Giant Short Arm of No:21 Chromosome in Mother of 21/21 Translocation Mongol. J Med Genet 1976;13:411-142.
  - Tuncbilek E. Yalcin C, Atasu M. Aglossia-Adactylia Syndrome (Special Emphasis on the Inheritance Pattern) Clin Genet 1977;11:421-423.
  - Tuncbilek E, Taysi K, Balci S, Tugcu K. Cri-du-Chat (5p Syndrome). Report of Two Cases. Turk J Pediatr 1976;18:110-115
 - Tuncbilek E, Kalacoglu M, Caglar M. Familial True Hermaphroditism. Turk J Pediatr 1978;20:29-34.
 - Kenanoglu A. Tuncbilek E. Acessory Diaphragm in the Left Side. Pediatr Radiol 1978;7:172-174.
 - Tuncbilek E, Kurultay N, Belgin E. Are Sex Chromosome Abnormalities a Factor in Speech Delay? Arch Dis Child 1978;53:831. 
- Altay C, Gurgey A, Tuncbilek E. Hematological Evaluation of Patients with Various Combinations of Thalassemia. J Hematol 1980;9:261-267.
 - Tuncbilek E, Balci S, Aktas D, Tasar C, Ozen E. The Prevalence of Chromosome Abnormalities in 160 Infertile Male Patients J Bulletine Medicine and Surgey 1980;12:375.
 - Tuncbilek E, Ozme S, Besim A, Balci S. Holt- Oram Syndrome Turk J Pediatr 1980;22:50-58.
 - Sarikayalar F, Tuncbilek E, Kaya S. Congenital Fusion of the Gums J Periodont. 1981;53:249-250.
 - Ozalp I, Hasanoglu A, Tuncbilek E, Yalaz K. Hyperlysinemia Without Clinical Findings. Acta pediatr Scand 1981;70:951-953.
 - Tuncbilek E, Uner S, Ulusoy M. Breastfeeding in Turkey: The Demograpic and Socio-Economic Aspects and Relationship with Infant/Child Mortality Turk J  Pediatr 1983;25:3-23.
 - Tuncbilek E., Besim A, Bakkaloglu A, Tuncer E, Secmeer G, Carpal-tarsal Osteolysis. Pediatr Radiol 1985:15;255-258.
 - Dikmen U, Kaya S, Ceyhan M, Kale G, Copur G, Tuncbilek E. Achondrogenesis Type II. Pediatr Radiol 1988;18:70.
 - Tuncbilek E, Ulusoy M, Consanguinity in Turkey in 1988. Turk J Pop Stud 1989;11:35-46.
 - Cataltepe S, Tuncbilek E. A Family With One Child With Accorocallosal Syndrome, One Child with Anencephaly- Polydactyly and Parental Consanguinity. Eur J Pediatr 1992;151:288-290.
 -Tuncbilek, E., Koc, İ., (1994) " Consanguineous Marriage in Turkey and Its Effects on Fertility and Mortality", Annals of Human Genetics, 58:321-329, Oct. 1994.
- Gurgey, A., Kara, A., Tuncer, M., Alikasifoglu, M., Tuncbilek, E. "Acute Lymphoblastic Leukemia Associated With Klinefelter Syndrome", Pediatr. Hem. and Oncol., II:227-228, 1994.
- Tuncbilek, E., Unalan, T., Coskun, T. "Indicators on Nutritional Status in Turkish Preschool Children: Results of Turkish Demographic and Health Survey 1993. J. Trop Pediatr 42: 78-84, 1996.
- Gungor, N., Tuncbilek, E. " SanFilippo Disease Type B. A case report and Review of the literature on Recent Advances in Bone Marrow Transplantation. The T. J. Pediatrics 37: 157-163, 1995.
- Aktas, D., Ayhan, A., Tuncbilek, E., Ozdemir, A., Uzunalimoglu, B., Rasa, K. "No evidence for overexpression of the p53 protein and mutations in exon 4-9 of the p53 gene in a large family with adenomatous polyposis. Europ. J. Hum. Genet., 4 Suppl 1, 1996.
- Saraclar, Y., Yigit, S., Adalioglu, G., Tuncer, A., Tuncbilek, E. "Prevalance of Allergic Diseases and Influencing Factors in Primary School Children in the Ankara Region of Turkey. J. Asthma 34 (1) 23-30, 1997.
- Alikasifoglu, M., Erbas, T., Tuncbilek, E., Anar, B., Gedik, O. " Relationship Between ACE Gene Polymorphism and Nephropathy in Turkish Diabetic Population. Diabetologia Vol 40, Supp 1, A-523, 1997. 5
- Alikasifoglu, M., Tuncbilek, E., Aktas, D. " Prenatal Detection of Aneuploidies by Fluorescence in situ hybridization (FISH) and maternal cell contamination in uncultured amniotic fluid. Cytogenet Cell Genet 77:5-158, 1997.
- Altay, C.,Alikasifoglu, M., Kara, A., Tuncbilek, E. et al. " Analysis of 65 Turkish Patients With Congenital Aplastic Anemia (Fanconi Anemia and non-Fanconi Anemia): Hacettepe Experience. Clin Genet 51 (5), 296-302, 1997.
- Tokgozoglu, L. S., Alikasifoglu, M., Atalar, E., Tuncbilek, E., Ovunc, K., Aksoyek, S., Kabakci, G., Anar, B., Ubsal, İ. and Kes, S. "Angiotensin converting enzyme gene polymorphism and the risk and extent of ischemic heart disease among Turkish patients." Coronary Artery Disease, 8;137-142, 1997.
- Ozen, S., Alikasifoglu, M., Tuncbilek, E., Bakkaloglu, A., Besbas, N., Anar, B., Saatci, U. "Polymorphism in angiotensin converting enzyme gene and reflux nephropathy a genetic predisposition to scar formation." Nephrology Dialysis Transplantation. 12: 2031-2032, 1997.
- Tuncbilek, E. "Genetic Services in Turkey." Eur. J. Hum. Genet. 5 (Suppl 2): 178-182, 1997
- Karnak, I., Tanyel, F.C., Tuncbilek, E., Unsal, M., Buyukpamukcu, N. "Bilateral Poland Anomaly." Am.J. Med. Genet. 75: 505-507, 1998.
-Aktas D, Ayhan A, Tuncbilek E, Ozdemir A, Uzunalimoglu B. No evidence for overexpression of the p53 protein and mutations in exons 4-9 of the p53 gene in a large family with adenomatous polyposis. Am J Gastroen. 1998, Sep 93(9): 1524-1526.
  - Boduroglu K, Alikasifoglu M, Tuncbilek E, Ceviz N, Anar B, Aynaci M, Demir E, Ozme S. Clinical and Genetic Correlate in Childhood Onset Freidreich�s Ataxia. Neuropediatrics 1999;30:1-5.
 - Tokgozoglu SL, Alikasifoglu M, Unsal İ, Atalar E, Aytemir K, Ozer N, Ovunc K, Unsal O, Kes S, Tuncbilek E. Methylene Tetrahydrofolate Reductase Genotype and the Risk and Extent of Coronary Artery Disease in a Population With Low Plasma Folate. Heart 1999;81:518-522.
 - Boduroglu K, Alikasifoglu M, Anar B, Tuncbilek E. Association of the 677�T mutation on th MTHFR Gene in Turkish Patients With Neural Tube Defects Child Neurol 1999;14:159-161.
 - Boduroglu K, Tuncbilek E. Frontometaphyseal Dysplasia: A Case With Arnold-Chiari Malformation and Bracket Epiphysis of the First Metacarpal Bone. J. Pediatr Int 1999;41:182-3.
 - Tuncbilek E. Alikasifoglu M, Boduroglu K, Aktas D, Anar B, Frequency of Fragile X Syndrome Among Turkish Patient With Mental Retardation of Unknown Etiology Amer J Med Genet 1999;84:202-203.
 - Koc A, Oner R, Aktas D, Sozen M, Tuncbilek E. Altay C : Myelodysplastic Syndrome (MDS). Associated With Increased Hemoglobin F and Trisomy 8: Presentation of a Patient Hematol Cell Ther 1999;41:187-189.
 - Aktas D, Yenicesu I, Hicsonmez G, Tuncbilek E: Loss of Maternal Allele in Child With Myelodysplastic Syndrome and Monosomy 7. Am J Hematol � 1999;62:49-51.
 - Erbas T, Alikasifoglu M. Aksoyek S, Unsal I, Gedik O, Tuncbilek E. Effects of Angiotensin Converting Enzyme Gene Polymorphism on the Left Ventricular Function and Mass in Patients With Acromegaly. Cardiology 1999;92:226-31.
 - Boduroglu K, Tuncbilek E. : Two Siblings With Bloom�s Syndrome Exhibit Different Clinical Features: Possible Effect of Sex: Turk J Pediatr 1999;41:107-111.
 - Tuncbilek E, Boduroglu K, Alikasifoglu M. Neural Tube Defects in Turkey: Prevalence, Distribution ad Risk Factors. Turk J Pediatr 1999;41(3):299-305.
 - Tuncbilek E, Boduroglu K, Alikasifoglu M: Results of the Turkish Congenital Malformation Survey. Turk J Pediatr, 1999;41:287-297.
 - Ozen S, Alikasifoglu M, Saatci U, Bakkaloglu A, Besbas N, Kara N, Kocak H, Erbas B, Unsal H, Tuncbilek E. Implications of Certain Genetic  Polymorphism in Scarring in Vesicoureteric Reflux: Importance of ACE Polymorphism. Am J Kidney Dis 1999;34:140-45.
 - Boduroglu K, Tuncbilek E, Coskun T, Ucar C, Infantile Galactosialidosis Associated With Vitamin deficiency Rickets. Tr J Medical Sciences 1999;29:331-333.
 - Aktas D, Koc A, Boduroglu K, Hicsonmez G, Tuncbilek E. Myelodysplastic Syndrome Associated With Monosomy 7 in a Child With Bloom Syndrome. Cancer Genet Cytogenet 2000;116:44-46.
 - Gungor N, Boke B, Belgin E, Tuncbilek E: High Freguency Hearing Loss in Ullrich-Turner Syndrome. Eur J Pediatr 2000;159:740-744.
 Alikasifoglu M, Malkoc N, Ceviz N, Ozme S, Uludogan S, Tuncbilek E. Microdeletion of 22q11(CATCH 22) in Children With Conotruncal Heart Defect and Extracardiac Malformations. Turk J Pediatr 2000;42:215-218.
 - Tuncbilek E, Alikasifoglu M, Aktas D, Duman F, Yanik H, Anar B, Oostra B, Williemsen R. Screening for the Fragile X Syndrome Among Mentally Retarded Males by Hair Root Analysis. Am J Med Genet 2000;95:105-107.
 - Aktas D, Ozen H, Atsu N, Tekin A, Sozen S, Tuncbilek E. Glutathione S Transferase Mi Gene Polymorphism in Bladder Cancer Patients: A Marker for Invasive Bladder Cancer. Cancer Genet and Cytogenet. 2001;125:1-4.
 - Aktas D, Cetin M, Hicsonmez G, Tuncbilek E. Tetrasomy 8 as a Primary Chromosomal Abnormality in a Child With Acute Megakaryoblastic Leukemia: A Case Report and Review of the Literature. Cancer Genet and Cytogenet, 2001;126:166-168. 
- Aktas D, Tuncbilek E. Onderoglu L. Chromosomal Mosaicism in a Pregnant Woman Treated With Acyclovir For Herpes Simplex Enceplalitis Am J Perinatal 2001;18:179-189.
 - Hicsonmez G, Cetin M, Yenicesu I, Olcay L, Koc L, Aktas D, Tuncbilek E. Tuncer M. Evaluation of Children With Myelodysplastic Syndrome: Importance of Extramedullary Disease as a Presenting Symptom Leukemia and Lymphoma 2001;18:179-189.
 - Tuncbilek E. Clinical Outcomes of Consanguineous Marriages in Turkey. Turk J Pediatr 2001;42:665-674.
 - Atalar E, Tokgozoglu LS., Alikasifoglu M, Ovunc K, Aksoyek S, Kes S, Tuncbilek E. ACE Genotype Predicts Valve Damage In Acute Rheumatic Fever. Turk J Cardiol 2001;4:242-246.
 - Ozen S, Alikasifoglu M, Bakkaloglu A, Duzova A., Varosova K, Nemcova D, Besbas N, Vencovsky J, Tuncbilek E. Tumour Necrosis Factor G-A-238 And G-A-308 Polymorphism In Juvenile Idiopathic Arthritis. Rheumatology 2002;41:223-227.
 - Aktas D, Guney I, Alikasifoglu M, Yuce K, Tuncbilek E, Ayhan A. CYP1A1 Gen Polymorphism and Risk of Epitelial Ovarian Neoplasm Gynecol Oncol 2002, 86, 124-8.