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Anaemia‐based screening for resistance to thyroid hormone alpha in children

Clinical endocrinology (Oxford), 2024-03, Vol.100 (3), p.304-311

2024

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A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy

Thyroid (New York, N.Y.), 2018-09, Vol.28 (9), p.1221-1223

2018

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ALK, ROS1 and EGFR status of lung cancers in the Aegean Region of Turkey

Indian journal of pathology & microbiology, 2022-04, Vol.65 (2), p.305-310

2022

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Childhood-onset mild diabetes caused by a homozygous novel variant in the glucokinase gene

Hormones (Athens, Greece), 2022-03, Vol.21 (1), p.163-169

2022

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Experiences in the molecular genetic and histopathological evaluation of calpainopathies

Neurogenetics, 2022-04, Vol.23 (2), p.103-114

2022

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Spinal muscular atrophy with respiratory distress type 1 (SMARD1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants

Turkish journal of pediatrics, 2022-03, Vol.64 (2), p.364-374

2022

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Impact of next‐generation sequencing panels in the evaluation of limb‐girdle muscular dystrophies

Annals of human genetics, 2019-09, Vol.83 (5), p.331-347

2019

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Hemophilia A carrier female newborn with novel p.M2274T mutation presented with psoas hematoma

Pediatric hematology oncology journal, 2017-10, Vol.2 (3), p.68-70

2017

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Heterozygous Beta Chain Variant Hemoglobin Pusan: A Rare Case Report in Turkish Population

Medeniyet medical journal, 2019, Vol.34 (4), p.396-399

2019

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Variant ataxia-telangiectasia in a child presenting with laryngeal dystonia

Turkish journal of pediatrics, 2020-05, Vol.62 (3), p.491-494

2020

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Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY)

Journal of Pediatric Endocrinology and Metabolism, 2018-12, Vol.31 (12), p.1295-1304

2018

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MKRN3 Gene Mutation in a Case of Familial Central Precocious Puberty

Güncel pediatri, 2022-04, Vol.20 (1), p.97-102

2022

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A novel COL4A4 gene variant (c.1856G>A): from a focal segmental glomerulosclerosis case to a family with Alport syndrome

Revista de nefrología, diálisis y transplante, 2019-04, Vol.39 (2), p.120-125

2019

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Congenital Disorder of Glycosylation: Clinical and Molecular Characteristics of 9 Patients from Turkey

Izmir Dr. Behçet Uz Çocuk Hastanesi dergisi, 2020-01

2020

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Novel ubiquitin protein ligase E3 component N-Recognin 1 gene mutation in johanson–blizzard syndrome: Development of hypothyroidism during infancy

Journal of clinical neonatology, 2017-07, Vol.6 (3), p.179

2017

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Targeted fetal cell‐free DNA screening for aneuploidies in 4,594 pregnancies: Single center study

Molecular genetics & genomic medicine, 2019-07, Vol.7 (7), p.e00678-n/a

2019

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The Frequency and Management of TP53 Mutation Carriers in Turkish Patients with BRCA-Negative Breast Cancer Under 50 Years of Age

Türk onkoloji dergisi, 2020

özdemir, taha reşid

2020

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Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum

Cytogenetic and genome research, 2017-01, Vol.153 (4), p.175-180

2017

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The relation between distant metastasis and genetic change type in stage IV lung adenocarcinoma patients at diagnosis

The clinical respiratory journal, 2021-02, Vol.15 (2), p.196-202

2021

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Evaluation of chromosomal abnormalities and Y-chromosome microdeletions in 1696 Turkish cases with primary male infertility: A single-center study

Turkish journal of urology, 2020-03, Vol.46 (2), p.95-100

2020

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QF-PCR in invasive prenatal diagnosis: a single-center experience in Turkey

Turkish journal of medical sciences, 2017-01, Vol.47 (1), p.142-147

2017

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JAK2V617F, CALR and MPL515L/K mutations and plateletcrit in essential thrombocythemia: A single centre's experience

International journal of clinical practice (Esher), 2021-04, Vol.75 (4), p.e13834-n/a

2021

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Neonatal classic galactosemia—diagnosis, clinical profile and molecular characteristics in unscreened Turkish population

Journal of tropical pediatrics (1980), 2022-10, Vol.68 (6)

2022

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The Clinical and Molecular Characteristics of Molybdenum Cofactor Deficiency Due to MOCS2 Mutations

Pediatric neurology, 2019-10, Vol.99, p.55-59

2019

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Anaemia‐based screening for resistance to thyroid hormone alpha in children

A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy

ALK, ROS1 and EGFR status of lung cancers in the Aegean Region of Turkey

Childhood-onset mild diabetes caused by a homozygous novel variant in the glucokinase gene

Experiences in the molecular genetic and histopathological evaluation of calpainopathies

Spinal muscular atrophy with respiratory distress type 1 (SMARD1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants

Impact of next‐generation sequencing panels in the evaluation of limb‐girdle muscular dystrophies

Hemophilia A carrier female newborn with novel p.M2274T mutation presented with psoas hematoma

Heterozygous Beta Chain Variant Hemoglobin Pusan: A Rare Case Report in Turkish Population

Variant ataxia-telangiectasia in a child presenting with laryngeal dystonia

Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY)

MKRN3 Gene Mutation in a Case of Familial Central Precocious Puberty

A novel COL4A4 gene variant (c.1856G>A): from a focal segmental glomerulosclerosis case to a family with Alport syndrome

Congenital Disorder of Glycosylation: Clinical and Molecular Characteristics of 9 Patients from Turkey

Novel ubiquitin protein ligase E3 component N-Recognin 1 gene mutation in johanson–blizzard syndrome: Development of hypothyroidism during infancy

Targeted fetal cell‐free DNA screening for aneuploidies in 4,594 pregnancies: Single center study

The Frequency and Management of TP53 Mutation Carriers in Turkish Patients with BRCA-Negative Breast Cancer Under 50 Years of Age

Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum

The relation between distant metastasis and genetic change type in stage IV lung adenocarcinoma patients at diagnosis

Evaluation of chromosomal abnormalities and Y-chromosome microdeletions in 1696 Turkish cases with primary male infertility: A single-center study

QF-PCR in invasive prenatal diagnosis: a single-center experience in Turkey

JAK2V617F, CALR and MPL515L/K mutations and plateletcrit in essential thrombocythemia: A single centre's experience

Neonatal classic galactosemia—diagnosis, clinical profile and molecular characteristics in unscreened Turkish population

Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum

The Clinical and Molecular Characteristics of Molybdenum Cofactor Deficiency Due to MOCS2 Mutations

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