Scientific work

Doç. Dr. Filiz Hazan

107 publications. The source of the information is stated next to each publication.

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  1. Ventricular septal defect in crouzon syndrome: Case report

    Genetic Counseling, 2012

    PMID 23431754 3 citations (OpenAlex) Source: ORCID

  2. A CARDIO-FACIO-CUTANEOUS SYNDROME CASE WITH TIGHT ACHILLES TENDONS

    Genetic Counseling, 2012

    PMID 22876591 2 citations (OpenAlex) Source: ORCID

  3. A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family

    American Journal of Medical Genetics Part A, 2012

    DOI 10.1002/ajmg.a.35371 PMID 22653704 17 citations (Europe PMC) Open-access full textSource: ORCID

  4. Hypochondroplasia in a Child with 1620C > G (Asn540Lys) Mutation in FGFR3

    JCRPE Journal of Clinical Research in Pediatric Endocrinology, 2012

    DOI 10.4274/jcrpe.787 PMID 23149434 3 citations (Europe PMC) Open-access full textSource: ORCID

  5. Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

    Plos One, 2012

    DOI 10.1371/journal.pone.0041516 PMID 22848519 18 citations (Europe PMC) Open-access full textSource: ORCID

  6. Silver-Russell Sendromu: Olgu Sunumu

    DergiPark (Istanbul University), 2012

    Open-access full textSource: OpenAlex

  7. Pontocerebellar hypoplasia type III (CLAM): Extended phenotype and novel molecular findings

    Journal of Neurology, 2009

    DOI 10.1007/s00415-009-0094-0 PMID 19277761 24 citations (Europe PMC) Source: ORCID