Faculty / Medical Geneticists

Elifcan Taşdelen

Medical Genetics Specialist

Department: Department of Medical Genetics, Ankara Etlik City Hospital

Departmental publications

Records from the department’s publication database linked to this researcher. The count above and this list come from the same index as the Publications page, so the figure matches that page’s author filter exactly. Author strings are reproduced from the source record and are not rewritten.

ACAN-Related Short Stature and Skeletal Dysplasia: Expanding the Phenotypic and Genotypic Spectrum in a 47 Patient Cohort From Turkey

Kolkıran A; Sarıkaya Özdemir B; Sezer A; Kulalı MA; Daşar T; Savaş Erdeve Ş; Alay MT; Uçan B; Kablan A; Taşdelen E; Dinçsoy Bir F; et al.

American Journal of Medical Genetics Part A · 2026

Departmental publications

ACAN-Related Short Stature and Skeletal Dysplasia: Expanding the Phenotypic and Genotypic Spectrum in a 47 Patient Cohort From Turkey

ADNP-Related Neurodevelopmental Disorder: The First Turkish Case Series with Novel Variants and Reduced Intrafamilial Penetrance

Atypical Biallelic Inheritance in "Dominant" Genes: Evidence From a Large-Scale Consanguineus Exome Cohort

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility

Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia ( SEMDTSED )

Clinical and Genetic Heterogeneity of Triple A Syndrome: A Multicenter Study

Clinical and genetic spectrum of SHOX deficiency: phenotypic heterogeneity and the “Jumping SHOX” phenomenon

Clinical and Molecular Spectrum of PIK3CA-Related Overgrowth Syndrome: A Turkish Cohort

Coffin–Lowry Sendromunun Fenotipik ve Genotipik Spektrumunun Genişletilmesi: Beş Olguda Klinik, Genetik ve Dismorfik Bulgular

Distribution of HFE Gene Variants in Patients Undergoing Genetic Testing in Türkiye: A Retrospective Analysis of 643 Cases

Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases

Lipoid proteinosis mimicking Sjögren’s syndrome: a diagnostic challenge in rheumatology practice

Phenotypic spectrum in patients with 16p11.2 deletion: a single tertiary centre experience in Türkiye

Refining the Hypochondroplasia Phenotypic Continuum: Genetic, Endocrine, and Radiological Findings in 23 Patients

Association between OX40L rs1234314 and rs844648 polymorphisms and unexplained recurrent pregnancy loss

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability

Clinical Consequences of Cancer-related RAS Signaling Pathway Beyond Malignancy

Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum

Decoding Genomic Variants in a Turkish Cohort of Patients with Spasticity

Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients

Ellis-Van Creveld Syndrome with Severe Mitral Valve Insufficiency Caused by a Homozygous Intragenic Deletion of the EVC Gene

Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye

Oromandibular Dystonia as the First Reported Presentation of SCA43 Due to MME c.94_95dup (p.Val33Argfs*10)

A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye

Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature