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Alper Gezdirici

Istanbul University

56

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A Rare Cause of Syncope: Naxos Disease Caused by Novel Homozygous Deletion in the JUP Gene.

2021 Circulation-cardiovascular Imaging
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Hereditary Breast-Ovarian Cancer and BRCA1 / BRCA2 variants: a single center experience

2021
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Retrospective analysis of prenatal invasive diagnostic procedures in a tertiary center

2021
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Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.

2021 European Journal of Medical Genetics
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Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations.

2021 Genes
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Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity

2021 Molecular Biology Reports
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An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants

2021 Journal of Human Genetics
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Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.

2020 European Journal of Human Genetics
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Mutations in LTBP1 cause autosomal recessive cutis laxa syndrome

2020
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Whole exome sequencing of consanguineous families of clinically diagnosed with neurodevelopmental disorders

2020
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