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Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability

Journal of human genetics, 2019-05, Vol.64 (5), p.421-426

2019

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Identification of epilepsy related pathways using genome-wide DNA methylation measures: A trio-based approach

PloS one, 2019-02, Vol.14 (2), p.e0211917-e0211917

2019

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Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1

Brain & development (Tokyo. 1979), 2022-06, Vol.44 (6), p.391-400

2022

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Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity

Genes & Genomics, 2023, 45(1), , pp.13-21

2023

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A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures

Human molecular genetics, 2011-05, Vol.20 (10), p.1886-1892

2011

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Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results

Frontiers in public health, 2023-01, Vol.10, p.1049349-1049349

2023

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Epilepsy Spectrum Associated with PRRT2 Variants: Case Presentations

Archives of Epilepsy, 2023-12, Vol.29 (4), p.121-125

2023

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A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis

Neuromolecular medicine, 2019-03, Vol.21 (1), p.54-59

2019

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Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype

Neurologia i neurochirurgia polska, 2019-01, Vol.53 (6), p.476-483

2019

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SCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCİATED WITH GLUT-1 DEFICIENCY SYNDROME

İstanbul Tıp Fakültesi dergisi = Journal of the Istanbul Faculty of Medicine, 2020-06, Vol.83 (3), p.177-183

2020

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Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up

Neurocase, 2022-02, Vol.28 (1), p.37-41

2022

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Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring

Neurological sciences, 2024-05, Vol.45 (5), p.2271-2277

2024

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Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in WDR45 associated with beta-propeller protein-associated neurodegeneration

International journal of neuroscience, 2023-05, Vol.ahead-of-print (ahead-of-print), p.1-6

2023

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Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey

Türk nöroloji dergisi, 2019-01, Vol.25 (4), p.233-236

2019

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A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family

Neurological sciences, 2018-12, Vol.39 (12), p.2123-2128

2018

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A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia

Brain & development (Tokyo. 1979), 2016-09, Vol.38 (8), p.755-758

2016

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Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span

Brain & development (Tokyo. 1979), 2018-06, Vol.40 (6), p.458-464

2018

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Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity

Genes & genomics, 2023-01, p.13-21

2023

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Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder

Neurological sciences, 2023-07, Vol.44 (7), p.2527-2540

2023

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Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey/Juvenil Miyoklonik Epilepside EFHC1 Geni ile Iliskili Yatkinlik: Turkiye'den Ilk Olgu Sunumu

Türk nöroloji dergisi, 2019-12, Vol.25 (4), p.233

2019

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Early-Onset Progressive Myoclonic Epilepsy With Dystonia Mapping to 16pter-p13.3

Journal of neurogenetics, 2010-12, Vol.24 (4), p.207-215

2010

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Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey

Türk nöroloji dergisi, 2019-12, Vol.25 (4), p.233-236

2019

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Jüvenil miyoklonik epilepside EFHC1 geni ile ilişkili yatkınlık: Türkiye’den ilk olgu sunumu

Türk nöroloji dergisi, 2019, Vol.25 (4), p.233-236

2019

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Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability

Identification of epilepsy related pathways using genome-wide DNA methylation measures: A trio-based approach

Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1

Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity

A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures

Obstacles and expectations of rare disease patients and their families in Türkiye: ISTisNA project survey results

Epilepsy Spectrum Associated with PRRT2 Variants: Case Presentations

A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis

Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype

SCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCİATED WITH GLUT-1 DEFICIENCY SYNDROME

Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up

Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring

Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in WDR45 associated with beta-propeller protein-associated neurodegeneration

Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey

A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family

A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia

Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span

Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity

Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)

Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder

Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey/Juvenil Miyoklonik Epilepside EFHC1 Geni ile Iliskili Yatkinlik: Turkiye'den Ilk Olgu Sunumu

Early-Onset Progressive Myoclonic Epilepsy With Dystonia Mapping to 16pter-p13.3

Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey

Jüvenil miyoklonik epilepside EFHC1 geni ile ilişkili yatkınlık: Türkiye’den ilk olgu sunumu

Applied genomics in the clinic: report and recommendations of a JRC workshop within the context of JRC enlargement and integration activities (E&IA)

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