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1. Retrospective Analysis of Multi-Method Sequencing Results in Patients with Skeletal Dysplasia

URTEKİN E., PERÇİN F. E., Bideci A., Kazan H., Bahap Y., KAYHAN G.
Gazi Medical Journal , vol.37, no.1, pp.92-99, 2026 (ESCI, Scopus, TRDizin) Creative Commons License identifier identifier identifier

2. Fluorescence in situ Hybridization Analysis Can Reveal Subtle Chromosomal Rearrangements in Pericentromeric Regions of Acrocentric Chromosomes in Patients with Reproductive Failure

Bahap Y., Ergun M. A., Tuğ E., Liehr T., Yirmibes Karaoguz M.
CYTOGENETIC AND GENOME RESEARCH , vol.165, no.6, pp.307-315, 2025 (SCI-Expanded, Scopus) Creative Commons License Sustainable Development identifier identifier identifier

3. A 37-kb Deletion in Region 16p13.3 in an Infant with Osteopetrosis and Congenital Diarrhea Including the CLCN7 and PERCC1 Genes

Sandal S., KAYHAN G., Kahvecioglu D., Vezir E., Kilic A., Kose A., et al.
MOLECULAR SYNDROMOLOGY , vol.15, no.5, pp.427-431, 2024 (SCI-Expanded, Scopus) Sustainable Development identifier identifier identifier

4. A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating UVSSA Variant: Might This Be a New Cause?

BAHAP Y., KAYHAN G.
Molecular syndromology , vol.15, no.4, pp.324-327, 2024 (SCI-Expanded, Scopus) identifier identifier identifier
Papers Presented at Peer-Reviewed Scientific Conferences 6

1. Clinical Significance of Gene-Specific ACMG/AMP Classification: A Single-Center Retrospective Analysis of BRCA1 and BRCA2 Variants of Uncertain Significance Using ClinGen ENIGMA Expert Panel Guideline

Bahap Y., Düzenli T., Babazade A., Vural O., Ergün M. A.
International Hereditary Cancers Congress, Antalya, Turkey, 6 - 08 February 2025, pp.93, (Summary Text) Creative Commons License

2. Ailesel cat-eye sendromu tanısında izlenen algoritmalar

Güneş E., Kayhan G., Bahap Y., Alpaslan E., Yirmibeş Karaoğuz M.
16.Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 4 - 08 December 2024, pp.5990, (Full Text) Creative Commons License

3. 16P13.3 DELETION UNIFYING OSTEOPETROSIS AND CONGENITAL DIARRHEA

BAHAP Y., SANDAL S., KAYHAN G.
Eurodysmorpho 2024, Ljubljana, Slovenia, 18 - 21 September 2024, (Summary Text) Creative Commons License

4. Revealing invisible chromosomal alterations involving pericentromeric regions of acrocentric chromosomes using specially designed FISH probes in patients with reproductive failure

Bahap Y., Ergün M. A., Tuğ E., Liehr T., Yirmibeş Karaoğuz M.
European Human Genetics Conference, Berlin, Germany, 1 - 04 June 2024, pp.2383, (Full Text) Creative Commons License

5. Fraser syndrome without cryptophtalmos: a novel variant.

Bahap Y., Gündoğdu Öğütlü Ö. B., Kayhan G., Perçin F. E.
Eurodysmorpho 2023, Lisbon, Portugal, 13 - 16 September 2023, pp.90-91, (Summary Text) Creative Commons License

6. Beyond BRCA Genes: Frequency of genes with breast cancer-associated variants in a single center

Savas A., BAHAP Y., Kazan H. H., KAYHAN G., ERGÜN M. A.
55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, Austria, 11 - 14 June 2022, vol.31, pp.561, (Summary Text) identifier
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