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Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

American journal of human genetics, 2011-08, Vol.89 (2), p.253-264

2011

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Reply to ‘contribution of the MRPS22 variant and a down mosaic to the phenotype’

Metabolic brain disease, 2018-12, Vol.33 (6), p.1779-1780

2018

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Presentation of 14 alkaptonuria patients from Turkey

Journal of Pediatric Endocrinology and Metabolism, 2020-02, Vol.33 (2), p.289-294

2020

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Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations

Journal of human genetics, 2013-10, Vol.58 (10), p.675-678

2013

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Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency

Metabolic brain disease, 2019-10, Vol.34 (5), p.1487-1491

2019

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Genetic Counseling for Phenylketonuria Complicated by Undiagnosed Parental Hyperphenylalaninemia in a Single Family

Klinische Pädiatrie, 2024-09, Vol.236 (5), p.311-313

2024

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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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Lysinuric protein intolerance: an overlooked diagnosis

Egyptian Journal of Medical Human Genetics, 2020-10, Vol.21 (1), p.42, Article 42

2020

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Isovaleric Acidemia Presenting as Diabetic Ketoacidosis: A Case Report

Journal of clinical research in pediatric endocrinology, 2014-03, Vol.6 (1), p.59-61

2014

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Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes

DNA and cell biology, 2014-12, Vol.33 (12), p.876-883

2014

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The bridge between cell survival and cell death: reactive oxygen species-mediated cellular stress

EXCLI journal, 2023-01, Vol.22, p.520-555

2023

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THE TREND TOWARDS PHENOME-WIDE ASSOCIATION STUDIES (PheWASs) IN COVID-19 RESEARCH

SOUTHERN JOURNAL OF SCIENCES, 2022-12, Vol.30 (34), p.32-46

2022

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Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

Turkish journal of pediatrics, 2021-07, Vol.63 (4), p.691-696

2021

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Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

Turkish journal of pediatrics, 2021-08, Vol.63 (4), p.691-696

2021

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Complement Factor I Gene Polymorphism in a Turkish Age-Related Macular Degeneration Population

Ophthalmologica (Basel), 2020-05, Vol.243 (3), p.187-194

2020

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Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10

American journal of medical genetics. Part A, 2024-09, Vol.194 (9), p.e63645-n/a

2024

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Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings

Clinical genetics, 2021-09, Vol.100 (3), p.308-317

2021

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Discovery of biomarkers in rare diseases: innovative approaches by predictive and personalized medicine

The EPMA journal, 2016-12, Vol.7 (1), p.24-24, Article 24

2016

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bridge between cell survival and cell death

EXCLI journal, 2023-06, Vol.22, p.520-555

2023

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Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I

Turkish journal of medical sciences, 2016-02, Vol.46 (2), p.404-408

2016

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Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic disease

Molecular vision, 2007-02, Vol.13, p.287-292

2007

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Dursun Syndrome Due to G6PC3 Gene Defect has a Fluctuating Pattern in All Blood Cell Lines

Journal of clinical immunology, 2014-04, Vol.34 (3), p.265-266

2014

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Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia

Neurology. Genetics, 2016-06, Vol.2 (3), p.e78-e78

2016

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Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa

Reply to ‘contribution of the MRPS22 variant and a down mosaic to the phenotype’

Presentation of 14 alkaptonuria patients from Turkey

Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations

Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency

Genetic Counseling for Phenylketonuria Complicated by Undiagnosed Parental Hyperphenylalaninemia in a Single Family

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

Lysinuric protein intolerance: an overlooked diagnosis

Isovaleric Acidemia Presenting as Diabetic Ketoacidosis: A Case Report

Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes

The bridge between cell survival and cell death: reactive oxygen species-mediated cellular stress

Erratum: The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

THE TREND TOWARDS PHENOME-WIDE ASSOCIATION STUDIES (PheWASs) IN COVID-19 RESEARCH

Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

Complement Factor I Gene Polymorphism in a Turkish Age-Related Macular Degeneration Population

Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10

Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings

Discovery of biomarkers in rare diseases: innovative approaches by predictive and personalized medicine

bridge between cell survival and cell death

Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I

Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic disease

Dursun Syndrome Due to G6PC3 Gene Defect has a Fluctuating Pattern in All Blood Cell Lines

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia

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