# Dilek Uludağ Alkaya

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/dilek-uludag-alkaya/

## Facts

| Field | Value |
| --- | --- |
| Citations | 380 |
| Field | Connective tissue disorders research |
| h-index | 12 |
| i10-index | 14 |
| Last Known Institution | Istanbul University-Cerrahpaşa |
| OpenAlex ID | https://openalex.org/A5013275279 |
| ORCID iD | 0000-0002-0495-6152 |
| Works | 53 |

## Researcher papers

- [Epidemiology and survival of childhood cancer in Turkey](https://scholariq.org/papers/epidemiology-and-survival-of-childhood-cancer-in-turkey/)
- [Genotype–phenotype investigation of 35 patients from 11 unrelated families with camptodactyly–arthropathy–coxa vara–pericarditis (<scp>CACP</scp>) syndrome](https://scholariq.org/papers/genotype-phenotype-investigation-of-35-patients-from-11-unrelated-families-with/)
- [Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy](https://scholariq.org/papers/bi-allelic-gad1-variants-cause-a-neonatal-onset-syndromic-developmental-and/)
- [Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey](https://scholariq.org/papers/clinical-and-molecular-characterization-of-fanconi-anemia-patients-in-turkey/)
- [Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants](https://scholariq.org/papers/osteogenesis-imperfecta-in-140-turkish-families-molecular-spectrum-and/)
- [Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients](https://scholariq.org/papers/mucolipidosis-type-iii-gamma-three-novel-mutation-and-genotype-phenotype-study/)
- [Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype](https://scholariq.org/papers/mutation-spectrum-and-pivotal-features-for-differential-diagnosis-of/)
- [Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey](https://scholariq.org/papers/skeletal-and-molecular-findings-in-51-cleidocranial-dysplasia-patients-from/)
- [Expanding the clinical phenotype of <scp>RASopathies</scp> in 38 Turkish patients, including the rare <scp><i>LZTR1</i></scp>, <scp><i>RAF1</i></scp>, <scp><i>RIT1</i></scp> variants, and large deletion in <scp><i>NF1</i></scp>](https://scholariq.org/papers/expanding-the-clinical-phenotype-of-scp-rasopathies-scp-in-38-turkish-patients/)
- [Congenital Heart Defects and Outcome in a Large Cohort of Down Syndrome: A Single-Center Experience from Turkey](https://scholariq.org/papers/congenital-heart-defects-and-outcome-in-a-large-cohort-of-down-syndrome-a-single/)
- [The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120](https://scholariq.org/papers/the-molecular-spectrum-of-turkish-osteopetrosis-and-related-osteoclast-disorders/)

## Researcher topics

- [Connective tissue disorders research](https://scholariq.org/topics/connective-tissue-disorders-research/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Bone Metabolism and Diseases](https://scholariq.org/topics/bone-metabolism-and-diseases/)
- [Neurogenetic and Muscular Disorders Research](https://scholariq.org/topics/neurogenetic-and-muscular-disorders-research/)

## Researcher university

- [Istanbul University-Cerrahpaşa](https://scholariq.org/institutions/istanbul-university-cerrahpasa/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.