Doç. Dr. Filiz Hazan
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Claim profilePerson ↔ Disease
Which diseases does this doctor work on?
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Intellectual Disability 6 publicationsSource: OpenAlex / PubMed MeSHView publications
- Dwarfism 5 publications
- Abnormalities, Multiple 5 publications
- Heart Defects, Congenital 4 publications
- Developmental Disabilities 3 publications
- Noonan Syndrome 3 publications
- Microcephaly 3 publications
- Congenital Hypothyroidism 2 publications
- Osteochondrodysplasias 2 publications
- Ectodermal Dysplasia 2 publications
- Failure to Thrive 2 publications
- Neurofibromatosis 1 2 publications
- Obesity, Morbid 2 publications
- Dental Caries 2 publications
- Neutropenia 2 publications
- Limb Deformities, Congenital 2 publications
- Lymphedema 2 publications
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Where does this information come from?
The source is stated next to each piece of information. If you see something wrong, you can suggest a correction.
- Department name at the sourceGenetik Hastalıklar Tanı Merkezisaglik.gov.trFrom source
- InstitutionSBÜ İtf Dr. Behçet Uz Çocuk Hastalıkları ve Cerrahisi Eğitim ve Araştırma Hastanesisaglik.gov.trFrom source
- Area of workIntellectual DisabilityExtracted from 6 publications · Model version —From source
- Publications107 publicationsOpenAlex, Europe PMC, ORCIDFrom source
- ORCID0000-0002-0382-3446ORCIDFrom source
- Last synchronised5 November 2026 09:07https://behcetuzch.saglik.gov.tr/TR-762213/doktorlarimiz.html#filiz-hazansaglik.gov.tr
Scientific work
Publications on Intellectual Disability
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Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients
Clinical Genetics, 2026
DOI 10.1111/cge.70225 PMID 42618064 Source: OpenAlex
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A Rare Cause of Intellectual Disability: Novel Mutation of ALKBH8 Gene in Two Different Families and Review of the Literature
American journal of medical genetics. Part A, 2026
DOI 10.1002/ajmg.a.70341 PMID 42951831 Open-access full textSource: Europe PMC
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TRACK Syndrome Caused by Homozygous TSEN2 c.1100-5T>A Variant Presenting with Atypical Hemolytic Uremic Syndrome and Early End-Stage Kidney Disease
Pediatric Practice and Research, 2026
DOI 10.21765/pprjournal.1833482 Open-access full textSource: OpenAlex
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Retrovesical Hybrid Benign Peripheral Nerve Sheath Tumor with a Heterozygous Germline NF2 Deletion in a 12-Year-Old Boy: A Case Report
Fetal and pediatric pathology, 2026
DOI 10.1080/15513815.2026.2713539 PMID 42623304 Source: Europe PMC
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Genetic evaluation of a group of patients with transient congenital hypothyroidism by targeted exome sequencing
Journal of pediatric endocrinology & metabolism : JPEM, 2026
DOI 10.1515/jpem-2026-0119 PMID 42112595 1 citation (Europe PMC) Source: Europe PMC
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Clinical spectrum and genetic landscape of MTHFR deficiency: a cohort study including novel variants
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026
DOI 10.1007/s10072-026-09447-w PMID 42825826 Source: Europe PMC
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A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny–Caffey syndrome type 2
Journal of Pediatric Endocrinology and Metabolism, 2026
DOI 10.1515/jpem-2025-0584 PMID 41842913 Source: OpenAlex
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Clinical and molecular characterization of 5α-reductase deficiency type 2 in 13 patients: First report of a family with homozygous deletion in exon 1 of SRD5A2
Archives de Pédiatrie, 2026
DOI 10.1016/j.arcped.2026.105602 PMID 42636744 Source: OpenAlex
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A Candidate Gene for Cerebro-Oculo-Nasal Syndrome: A Zinc-Finger Gene ZNF185 Located at Xq28
Molecular Syndromology, 2025
DOI 10.1159/000549375 PMID 41404552 Open-access full textSource: OpenAlex
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The Clinical and Molecular Spectrum of Patients With X-Linked Intellectual Disability and Novel Variations in Different Genes
Pediatric Neurology, 2025
DOI 10.1016/j.pediatrneurol.2025.01.016 PMID 39951932 1 citation (Europe PMC) Source: ORCID