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Ayberk Turkyilmaz

Showing results (11-20 of 39) with videos related to

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Molecular Syndromology|November 13, 2025
Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern AnatoliaOguzhan Yarali, Ayberk Turkyilmaz, Muharrem Bayrak, et al.
Molecular Genetics and Genomics : MGG|December 25, 2024
Analysis of TSC1 and TSC2 genes and evaluation of phenotypic correlations with tuberous sclerosisMetin Eser, Gulam Hekimoglu, Busra Kutlubay, et al.
Medeniyet Medical Journal|June 23, 2022
Multigene Panel Testing in Turkish Hereditary Cancer Syndrome PatientsEsra Arslan Ates, Ayberk Turkyilmaz, Ceren Alavanda, et al.
The International Journal of Neuroscience|August 11, 2021
Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous populationDilsad Turkdogan, Ayberk Turkyilmaz, Gunes Sager, et al.
Molecular Syndromology|December 18, 2025
Two Unrelated Witteveen-Kolk Syndrome Patients Presenting with Unusual Clinical Features: Dual Diagnosis and Atypical Rare ManifestationMustafa Yilmaz, Ayse Ozden, Hakan Doneray, et al.
Neurogenetics|May 27, 2025
A recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish populationPinar Ozkan Kart, Oguzhan Demir, Ayberk Turkyilmaz, et al.
Clinical Dysmorphology|October 10, 2020
Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variantAyberk Turkyilmaz, Bilgen Bilge Geçkinli, Ceren Alavanda, et al.
Molecular Syndromology|April 3, 2025
Discovery of a Novel <i>CUL3</i> Variant: Unveiling Epilepsy and Newly Associated Dysmorphic Traits in a Turkish PatientYavuzhan Colak, Mustafa Yilmaz, Pinar Ozkan Kart, et al.
Journal of Cancer Research and Clinical Oncology|June 12, 2026
Phenotypic heterogeneity in carriers of a pathogenic MSH2 variant: implications for the diagnosis of Lynch syndromeTuna Apuhan, Oguzhan Demir, Zeynep Sagnak Yilmaz, et al.
American Journal of Medical Genetics. Part A|June 28, 2024
Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individualsOguzhan Demir, Kubra Adanur Saglam, Mustafa Yilmaz, et al.
Pageof 4

Showing results (11-20 of 39) with videos related to

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Pageof 4
Molecular Syndromology|November 13, 2025
Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern AnatoliaOguzhan Yarali, Ayberk Turkyilmaz, Muharrem Bayrak, et al.
Molecular Genetics and Genomics : MGG|December 25, 2024
Analysis of TSC1 and TSC2 genes and evaluation of phenotypic correlations with tuberous sclerosisMetin Eser, Gulam Hekimoglu, Busra Kutlubay, et al.
Medeniyet Medical Journal|June 23, 2022
Multigene Panel Testing in Turkish Hereditary Cancer Syndrome PatientsEsra Arslan Ates, Ayberk Turkyilmaz, Ceren Alavanda, et al.
The International Journal of Neuroscience|August 11, 2021
Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous populationDilsad Turkdogan, Ayberk Turkyilmaz, Gunes Sager, et al.
Molecular Syndromology|December 18, 2025
Two Unrelated Witteveen-Kolk Syndrome Patients Presenting with Unusual Clinical Features: Dual Diagnosis and Atypical Rare ManifestationMustafa Yilmaz, Ayse Ozden, Hakan Doneray, et al.
Neurogenetics|May 27, 2025
A recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish populationPinar Ozkan Kart, Oguzhan Demir, Ayberk Turkyilmaz, et al.
Clinical Dysmorphology|October 10, 2020
Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variantAyberk Turkyilmaz, Bilgen Bilge Geçkinli, Ceren Alavanda, et al.
Molecular Syndromology|April 3, 2025
Discovery of a Novel <i>CUL3</i> Variant: Unveiling Epilepsy and Newly Associated Dysmorphic Traits in a Turkish PatientYavuzhan Colak, Mustafa Yilmaz, Pinar Ozkan Kart, et al.
Journal of Cancer Research and Clinical Oncology|June 12, 2026
Phenotypic heterogeneity in carriers of a pathogenic MSH2 variant: implications for the diagnosis of Lynch syndromeTuna Apuhan, Oguzhan Demir, Zeynep Sagnak Yilmaz, et al.
American Journal of Medical Genetics. Part A|June 28, 2024
Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individualsOguzhan Demir, Kubra Adanur Saglam, Mustafa Yilmaz, et al.
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