Yasemin Kendir-Demirkol

13PUBLICATIONS
272CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Infant and child healthGene mappingMedical infection agents (incl. prions)Immunogenetics (incl. genetic immunology)
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Publications (13)

|Oct 29, 2025
Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants.

Burcu Yeter, Yasemin Kendir Demirkol, Esra Usluer

|Aug 29, 2025
Secondary findings in pediatric genomic testing: clinical insights from Turkey.

Yasemin Kendir-Demirkol, Burcu Yeter

|Jul 31, 2025
Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1.

Burcu Yeter, Yasemin Kendir Demirkol, Esra Usluer

|Nov 22, 2024
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

Evangelos Bellos, Dilys Santillo, Pierre Vantourout

|Feb 16, 2024
Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.

Jérémie Rosain, Ayca Kiykim, Alexandre Michev

|Jan 23, 2024
Lack of NAD(P)+ transhydrogenase activity in patients with primary adrenal insufficiency due to NNT variants.

Annelise Francisco, Ayse Mine Yilmaz Goler, Claudia Daniele Carvalho Navarro

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Frequent Collaborators

4 joint publications

Ayca Kiykim

4 joint publications

Jean-Laurent Casanova

4 joint publications

Sevgi Keles

3 joint publications

Özlem Akgün Doğan