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Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability

Journal of human genetics, 2022-05, Vol.67 (5), p.279-284

2022

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Evaluation of the parents’ anxiety levels before and after the diagnosis of their child with a rare genetic disease: the necessity of psychological support

Orphanet journal of rare diseases, 2021-09, Vol.16 (1), p.1-402, Article 402

2021

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Phenotypic expansion illuminates multilocus pathogenic variation

Genetics in medicine, 2018-12, Vol.20 (12), p.1528-1537

2018

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Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy

Orphanet journal of rare diseases, 2022-09, Vol.17 (1), p.1-359, Article 359

2022

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Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

European journal of human genetics : EJHG, 2020-09, Vol.28 (9), p.1243-1264

2020

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Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10

Pediatric neurology, 2024-09, Vol.158, p.1-10

2024

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Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

Cell, 2014-04, Vol.157 (3), p.636-650

2014

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Two patients with chronic mucocutaneous candidiasis caused by TRAF3IP2 deficiency

Journal of allergy and clinical immunology, 2021-07, Vol.148 (1), p.256-261.e2

2021

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A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy

American journal of medical genetics. Part A, 2022-09, Vol.188 (9), p.2701-2706

2022

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Investigation of (epi)genotype causes and follow‐up manifestations in the patients with classical and atypical phenotype of Beckwith‐Wiedemann spectrum

American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1721-1731

2021

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The effect of DNA repair gene variants on COVID-19 disease: susceptibility, severity, and clinical course

Nucleosides, nucleotides & nucleic acids, 2023, Vol.42 (8), p.571-585

2023

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Investigation of MBL2 and NOS3 functional gene variants in suspected COVID-19 PCR (-) patients

Pathogens and global health, 2022-04, Vol.116 (3), p.178-184

2022

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Rare cause of severe hypertension in an adolescent boy presenting with short stature: Answers

Pediatric nephrology (Berlin, West), 2020-03, Vol.35 (3), p.405-407

2020

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A Rare Inherited Bone Marrow Failure Syndrome Disclosed by Reanalysis of the Exome Data of a Patient Evaluated for Cytopenia and Dysmorphic Features

Journal of pediatric hematology/oncology, 2024-04, Vol.46 (3), p.e214

2024

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Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients

Gene, 2018-02, Vol.642, p.398-407

2018

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Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy

Balkan medical journal, 2018-08, Vol.35 (4), p.336-339

2018

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Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients

Annals of human genetics, 2021-09, Vol.85 (5), p.155-165

2021

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A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia

Journal of clinical research in pediatric endocrinology, 2022-12, Vol.14 (4), p.475-480

2022

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Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1

Clinical neurology and neurosurgery, 2018-01, Vol.164, p.47-49

2018

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MRI and MRS findings in fucosidosis; a rare lysosomal storage disease

Brain & development (Tokyo. 1979), 2016-04, Vol.38 (4), p.435-438

2016

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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 Rare Cause of Adrenal Insufficiency – Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature

Hormone research in paediatrics, 2020-06, Vol.92 (6), p.395-403

2020

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A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene

Turkish journal of pediatrics, 2017, Vol.59 (5), p.601-603

2017

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Clinical and molecular findings in 6 Turkish cases with Krabbe disease

The Turkish journal of pediatrics, 2022-01, Vol.64 (1), p.69-78

2022

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Vanishing white matter disease with different faces

Child's nervous system, 2020-02, Vol.36 (2), p.353-361

2020

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Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability

Evaluation of the parents’ anxiety levels before and after the diagnosis of their child with a rare genetic disease: the necessity of psychological support

Phenotypic expansion illuminates multilocus pathogenic variation

Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10

Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

Two patients with chronic mucocutaneous candidiasis caused by TRAF3IP2 deficiency

A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy

Investigation of (epi)genotype causes and follow‐up manifestations in the patients with classical and atypical phenotype of Beckwith‐Wiedemann spectrum

The effect of DNA repair gene variants on COVID-19 disease: susceptibility, severity, and clinical course

Investigation of MBL2 and NOS3 functional gene variants in suspected COVID-19 PCR (-) patients

Rare cause of severe hypertension in an adolescent boy presenting with short stature: Answers

A Rare Inherited Bone Marrow Failure Syndrome Disclosed by Reanalysis of the Exome Data of a Patient Evaluated for Cytopenia and Dysmorphic Features

Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients

Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy

Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients

A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia

Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1

MRI and MRS findings in fucosidosis; a rare lysosomal storage disease

Epilepsy Spectrum Associated with PRRT2 Variants: Case Presentations

A Rare Cause of Adrenal Insufficiency – Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature

A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene

Clinical and molecular findings in 6 Turkish cases with Krabbe disease

Vanishing white matter disease with different faces

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