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Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing

BioMed research international, 2016-01, Vol.2016 (2016), p.1-14

2016

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The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

Human genetics, 2014-01, Vol.133 (1), p.29-39

2014

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Co-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failure

Reproductive biology, 2020-03, Vol.20 (1), p.42-47

2020

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The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders

BioMed research international, 2014-01, Vol.2014 (2014), p.1-8

2014

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Molecular spectrum of α-globin gene mutations in the Aegean region of Turkey: first observation of three α-globin gene mutations in the Turkish population

International journal of hematology, 2015-07, Vol.102 (1), p.1-6

2015

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The Italian National External Quality Assessment Program in Molecular Genetic Testing: Results of the VII Round (2010-2011)

BioMed research international, 2013-01, Vol.2013 (2013), p.1-8

2013

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Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

BioMed research international, 2013-01, Vol.2013 (2013), p.1-8

2013

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Targeting the Immunogenetic Diseases with the Appropriate HLA Molecular Typing: Critical Appraisal on 2666 Patients Typed in One Single Centre

BioMed research international, 2013-01, Vol.2013 (2013), p.1-7

2013

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Micronucleus evaluation for determining the chromosomal breakages after radionuclide synovectomy in patients with hemophilia

Annals of nuclear medicine, 2012, Vol.26 (1), p.41-46

2012

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Role of angiotensin-converting enzyme gene polymorphisms in children with sepsis and septic shock

Pediatrics international, 2008-08, Vol.50 (4), p.477-480

2008

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Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping

European journal of medical genetics, 2019-09, Vol.62 (9), p.103544-103544, Article 103544

2019

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Oxidative stress biomarkers in four Bloom syndrome (BS) patients and in their parents suggest in vivo redox abnormalities in BS phenotype

Clinical biochemistry, 2007-10, Vol.40 (15), p.1100-1103

2007

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The evaluation of hTERT mRNA expression in acute leukemia children and 2 years follow-up of 40 cases

International journal of hematology, 2008-04, Vol.87 (3), p.276-283

2008

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A further Turkish case of Griscelli syndrome with new RAB27A mutation

Journal of the American Academy of Dermatology, 2008-05, Vol.58 (5), p.S115-S116

2008

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Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing

Clinical dysmorphology, 2021-04, Vol.30 (2), p.93-99

2021

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Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations

Clinical neurology and neurosurgery, 2018-09, Vol.172, p.20-23

2018

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Clinical and molecular aspects of PTEN mutations in 10 pediatric patients

Annals of human genetics, 2020-07, Vol.84 (4), p.324-330

2020

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Biallelic ZNF335 mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy

Journal of neurogenetics, 2021-03, Vol.35 (1), p.23-28

2021

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Identification of the molecular etiology in rare congenital hemolytic anemias using next‐generation sequencing with exome‐based copy number variant analysis

European journal of haematology, 2024-07, Vol.113 (1), p.82-89

2024

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Evaluation of 80 children with prolonged fever

Pediatrics international, 2003-10, Vol.45 (5), p.564-569

2003

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Prospective Evaluation of Whole Genome MicroRNA Expression Profiling in Childhood Acute Lymphoblastic Leukemia

BioMed research international, 2014-01, Vol.2014 (2014), p.1-7

2014

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Celiac disease in children with Down syndrome: Importance of follow-up and serologic screening

Pediatrics international, 2003-08, Vol.45 (4), p.395-399

2003

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MicroRNA expression profiling in children with different asthma phenotypes

Pediatric pulmonology, 2016-06, Vol.51 (6), p.582-587

2016

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The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis

Journal of Pediatric Endocrinology and Metabolism, 2021-07, Vol.34 (7), p.957-960

2021

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MEFV mutations in patients with familial Mediterranean fever from the Aegean region of Turkey

Molecular biology reports, 2010, Vol.37 (1), p.93-98

2010

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Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing

The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

Co-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failure

The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders

Molecular spectrum of α-globin gene mutations in the Aegean region of Turkey: first observation of three α-globin gene mutations in the Turkish population

The Italian National External Quality Assessment Program in Molecular Genetic Testing: Results of the VII Round (2010-2011)

Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

Targeting the Immunogenetic Diseases with the Appropriate HLA Molecular Typing: Critical Appraisal on 2666 Patients Typed in One Single Centre

Micronucleus evaluation for determining the chromosomal breakages after radionuclide synovectomy in patients with hemophilia

Role of angiotensin-converting enzyme gene polymorphisms in children with sepsis and septic shock

Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping

Oxidative stress biomarkers in four Bloom syndrome (BS) patients and in their parents suggest in vivo redox abnormalities in BS phenotype

The evaluation of hTERT mRNA expression in acute leukemia children and 2 years follow-up of 40 cases

A further Turkish case of Griscelli syndrome with new RAB27A mutation

Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing

Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations

Clinical and molecular aspects of PTEN mutations in 10 pediatric patients

Biallelic ZNF335 mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy

Identification of the molecular etiology in rare congenital hemolytic anemias using next‐generation sequencing with exome‐based copy number variant analysis

Evaluation of 80 children with prolonged fever

Prospective Evaluation of Whole Genome MicroRNA Expression Profiling in Childhood Acute Lymphoblastic Leukemia

Celiac disease in children with Down syndrome: Importance of follow-up and serologic screening

MicroRNA expression profiling in children with different asthma phenotypes

The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis

MEFV mutations in patients with familial Mediterranean fever from the Aegean region of Turkey

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