Ergül Tunçbılek

Hacettepe University — Turkey

Medicine · Health Sciences

23h-index1.5kcitations70works0.02yr avg
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Research Topics

Prenatal Screening and Diagnostics(9), Acute Lymphoblastic Leukemia research(7), Genomic variations and chromosomal abnormalities(7), Neurogenetic and Muscular Disorders Research(7), Acute Myeloid Leukemia Research(6)

Publications70 total

Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry
European Journal of Obstetrics & Gynecology and Reproductive Biology·2017· 6 cited
Gorlin Syndrome in Eleven Patients
The Journal of Pediatric Research·2017· 1 citedOpen Access
<i>Methylene tetrahydrofolate reductase</i> polymorphisms and homocysteine level in heart defects
Pediatrics International·2013· 13 cited
Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta
The American Journal of Human Genetics·2010· 30 citedOpen Access
Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta
The American Journal of Human Genetics·2010· 312 citedOpen Access
Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair
Molecular Cytogenetics·2010· 18 citedOpen Access
Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients
The Turkish Journal of Pediatrics·2009· 12 citedOpen Access
Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report
Molecular Cytogenetics·2009· 6 citedOpen Access
Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance.
PubMed·2008· 6 cited
Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH
European Journal of Medical Genetics·2008· 3 cited
Application of medical genetics in Turkey.
PubMed·2008· 43 citedOpen Access
Factor V Leiden mutation and type 1 diabetes mellitus
Blood Coagulation & Fibrinolysis·2008· 7 cited
Cavernous malformation with Poland–Möbius syndrome
Journal of Neurosurgery Pediatrics·2007· 4 cited
Cerebro-facio-thoracic dysplasia: expanding the phenotype
Clinical Dysmorphology·2007· 10 cited
A Hypotonic Infant With Tachycardia and Fever of Unknown Origin
Journal of Pediatric Health Care·2007· 1 cited
A Hypotonic Infant With Tachycardia and Fever of Unknown Origin
Journal of Pediatric Health Care·2007· 1 cited
Myelodysplastic syndrome associated with monosomy 7 in childhood: a retrospective study
Cancer Genetics and Cytogenetics·2006· 26 cited
Congenital contractural arachnodactyly (Beals syndrome)
Orphanet Journal of Rare Diseases·2006· 80 citedOpen Access
Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome
Pediatric Radiology·2006· 5 cited
Spondylo‐ocular syndrome: A new entity involving the eye and spine
American Journal of Medical Genetics Part A·2006· 13 cited
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Frequent Co-authors

Dilek Aktaş(17), Mehmet Alikaşifoğlu(17), Yasemin Alanay(14), Koray Boduroğlu(11), Gülen Eda Ütine(7), Dilek Aktaş(4), Burhan Say(4), Andrea Superti‐Furga(3), Nurten Akarsu(3), Deborah Krakow(3), Abdurrahman Kara(3), Eda Ütine(3), Gönül Hiçsönmez(3), Hrispima Avaygan(2), Natalia Camacho(2), Filiz Tiker Bakar(2), B. Zabel(2), Leena Bruckner‐Tuderman(2), Cindy J.R. Curry(2), Shawna M. Pyott(2)