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Perplexing Etiology of Hyperphenylalaninemia in an Infant Referred via Newborn Screening

Clinical chemistry (Baltimore, Md.), 2021-10, Vol.67 (10), p.1428-1431

2021

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Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect

Journal of inherited metabolic disease, 2019-03, Vol.42 (2), p.381-388

2019

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Correction to: DNAJC12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant

Metabolic brain disease, 2021-08, Vol.36 (6), p.1411-1411

2021

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A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay

Cold Spring Harbor molecular case studies, 2016-03, Vol.2 (2), p.a000703-a000703

2016

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TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Brain (London, England : 1878), 2024-01, Vol.147 (1), p.311-324

2024

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A big picture of the mitochondria-mediated signals: From mitochondria to organism

Biochemical and biophysical research communications, 2023-10, Vol.678, p.45-61

2023

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Mutations in the G6PC3 gene cause Dursun syndrome

American journal of medical genetics. Part A, 2010-10, Vol.152A (10), p.2609-2611

2010

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An investigation of different intracellular parameters for Inborn Errors of Metabolism: Cellular stress, antioxidant response and autophagy

Free radical biology & medicine, 2022-02, Vol.179, p.190-199

2022

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Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy

Molecular genetics and metabolism, 2023-11, Vol.140 (3), p.107706-107706, Article 107706

2023

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DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant

Metabolic brain disease, 2021-08, Vol.36 (6), p.1405-1410

2021

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Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four

The Turkish journal of pediatrics, 2015-05, Vol.57 (3), p.213

2015

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Novel Alu retrotransposon insertion leading to Alström syndrome

Human genetics, 2012-03, Vol.131 (3), p.407-413

2012

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Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation

Turkish journal of pediatrics, 2015-07, Vol.57 (4), p.388

2015

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Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency

The Journal of steroid biochemistry and molecular biology, 2017-01, Vol.165 (Pt A), p.57-63

2017

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Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity

European journal of medical genetics, 2021-11, Vol.64 (11), p.104340-104340, Article 104340

2021

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Ağır Biyotinidaz Eksikliği Olgusunda Yeni Çift Homozigot BTD Gen Mutasyonu

Turkish Journal of Pediatric Disease, 2022-09, p.1-3

2022

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Association of CFH Y402H Polymorphism with Both Forms of Advanced Age-Related Macular Degeneration in Turkish Patients

Ophthalmic genetics, 2012-09, Vol.33 (3), p.144-149

2012

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Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement

Clinical dysmorphology, 2009-01, Vol.18 (1), p.19

2009

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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Nature genetics, 2015-05, Vol.47 (5), p.528-534

2015

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Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation

The Turkish journal of pediatrics, 2015, Vol.57 (4), p.388-393

2015

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Mutations in the G6PC3 gene cause Dursun syndrome

American Journal of Medical Genetics Part A, 2010, Vol.152A (10), p.2609-2611

2010

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

International journal of human genetics, 2015-01, Vol.60 (1), p.1-9

2015

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Myocilin mt1 promoter polymorphism in Turkish patients with primary open angle glaucoma

Molecular vision, 2005-11, Vol.11, p.916-921

2005

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Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey

Neurogenetics, 2004-09, Vol.5 (3), p.165-170

2004

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Perplexing Etiology of Hyperphenylalaninemia in an Infant Referred via Newborn Screening

Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect

Correction to: DNAJC12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant

A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

A big picture of the mitochondria-mediated signals: From mitochondria to organism

Mutations in the G6PC3 gene cause Dursun syndrome

An investigation of different intracellular parameters for Inborn Errors of Metabolism: Cellular stress, antioxidant response and autophagy

Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy

DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant

Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four

Novel Alu retrotransposon insertion leading to Alström syndrome

Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation

Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency

Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity

Ağır Biyotinidaz Eksikliği Olgusunda Yeni Çift Homozigot BTD Gen Mutasyonu

Association of CFH Y402H Polymorphism with Both Forms of Advanced Age-Related Macular Degeneration in Turkish Patients

Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation

Mutations in the G6PC3 gene cause Dursun syndrome

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

Myocilin mt1 promoter polymorphism in Turkish patients with primary open angle glaucoma

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey

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