Publications & Works

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Journal articles indexed in SCI, SSCI, and AHCI

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) Sustainable Development identifier identifier identifier

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) identifier identifier identifier
Papers Presented at Peer-Reviewed Scientific Conferences

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

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

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

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
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