Prof. Dr. Taha Reşid Özdemir

First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss

Turkish Archives of Otorhinolaryngology, 2019

DOI 10.5152/tao.2019.4320 PMID 31620696 2 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

Molecular genetic evaluation of NLRP3, MVK and TNFRSF1A associated periodic fever syndromes

International Journal of Immunogenetics, 2019

DOI 10.1111/iji.12431 PMID 31135083 6 citations (Europe PMC) Source : ORCID

Targeted Next-Generation Sequencing of MLH1, MSH2, and MSH6 Genes in Patients with Endometrial Carcinoma under 50 Years of Age

Balkan Medical Journal, 2019

DOI 10.4274/balkanmedj.2018.0922 PMID 30238922 3 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

cfDNA in exhaled breath condensate (EBC) and contamination by ambient air: toward volatile biopsies

Journal of Breath Research, 2019

DOI 10.1088/1752-7163/ab17ff PMID 30970343 7 citations (Europe PMC) Source : ORCID

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

Journal of Pediatric Endocrinology and Metabolism, 2018

DOI 10.1515/jpem-2018-0184 PMID 30447144 25 citations (Europe PMC) Source : OpenAlex

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

Thyroid, 2018

DOI 10.1089/thy.2018.0015 PMID 29882503 24 citations (Europe PMC) Texte intégral en libre accèsSource : OpenAlex

The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey

The Turkish Journal of Pediatrics, 2018

DOI 10.24953/turkjped.2018.02.018 PMID 30325133 6 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

A Novel De Novo Missense Mutation in HNF4A Resulting in Sulfonylurea-Responsive Maturity-onset Diabetes of the Young

The Journal of Pediatric Research, 2018

DOI 10.4274/jpr.60252 1 citation (OpenAlex) Texte intégral en libre accèsSource : ORCID

De novo pure 1q42.11qter duplication syndrome: a case report

European Journal of Human Genetics, 2018

Source : ORCID

Fetal HLA-G alleles and their effect on miscarriage

Advances in Clinical and Experimental Medicine, 2018

DOI 10.17219/acem/69692 PMID 29809322 6 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

Immunodeficiency in a Child with Alstrom Syndrome

The Indian Journal of Pediatrics, 2018

DOI 10.1007/s12098-018-2740-y PMID 30155784 Source : ORCID

Liquid biopsy for EGFR mutations in non-small cell lung cancer cases by RT-PCR

European Respiratory Journal, 2018

DOI 10.1183/13993003.congress-2018.pa1757 1 citation (OpenAlex) Source : ORCID

Prenatal diagnosis in a case of 8p inverted duplication deletion syndrome

European Journal of Human Genetics, 2018

Source : ORCID

QFPCR in Invasive Prenatal Diagnosis: Single Center Experience in Turkey

European Journal of Human Genetics, 2018

Source : ORCID

Tek Gen Hastalıklarında Prenatal Tanı

Turkiye Klinikleri Medical Genetics - Special Topics, 2018

Source : OpenAlex

IFNG and IFNGR1 identification of a novel mutation

2018

Source : OpenAlex

A De Novo Xp11.23 Duplication in a Girl with a Severe Phenotype: Expanding the Clinical Spectrum

Journal of Pediatric Genetics, 2017

DOI 10.1055/s-0037-1612598 PMID 29707408 6 citations (OpenAlex) Texte intégral en libre accèsSource : OpenAlex

Experiences in microarray-based evaluation of developmental disabilities and congenital anomalies

Clinical Genetics, 2017

DOI 10.1111/cge.12978 PMID 28128450 9 citations (Europe PMC) Source : ORCID

GENOTYPIC AND PHENOTYPIC FEATURES AND TREATMENT RESULTS OF A SELENOCYSTEINE INSERTION SEQUENCE-BINDING PROTEIN 2 (SECISBP2) MUTATION

Hormone Research in Paediatrics, 2017

Source : ORCID

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

Turkish Journal of Medical Sciences, 2017

DOI 10.3906/sag-1511-157 PMID 28263482 1 citation (Europe PMC) Texte intégral en libre accèsSource : ORCID

Whole-genome gene expression analysis in urine samples of patients with prostate cancer and benign prostate hyperplasia

Urologic Oncology: Seminars and Original Investigations, 2017

DOI 10.1016/j.urolonc.2017.05.020 PMID 28647394 4 citations (Europe PMC) Source : ORCID

The Genetic Method in the Differential Diagnosis of Molar Pregnancies

Turkiye Klinikleri Journal of Case Reports, 2017

DOI 10.5336/caserep.2016-51712 Texte intégral en libre accèsSource : OpenAlex

Somatosensory reflex seizures in a child with epilepsy related to novel SCN1A mutation

Child s Nervous System, 2016

DOI 10.1007/s00381-016-3297-6 PMID 27889818 9 citations (OpenAlex) Source : OpenAlex

Klinefelter sendromlu azospermik olgularda testiküler sperm ekstraksiyonu (TESE) başarısı için prediktif faktörler

Ege Tıp Dergisi, 2016

DOI 10.19161/etd.344180 Texte intégral en libre accèsSource : OpenAlex

The Genetic Method in the Differantial Diagnosis of Molar Pregnancies: A Case Report

Turkiye Klinikleri Journal of Gynecology and Obstetrics, 2016

DOI 10.5336/gynobstet.2016-51712 Texte intégral en libre accèsSource : OpenAlex

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

Journal of Human Genetics, 2015

DOI 10.1038/jhg.2014.85 PMID 25296579 35 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

A Case of Cystic Fibrosis With a Rare Mutation (3849+10 kbC>T) and Normal Sweat Chloride Levels

Iranian Journal of Pediatrics, 2015

DOI 10.5812/ijp.369 PMID 26196003 3 citations (Europe PMC) Texte intégral en libre accèsSource : ORCID

IFNG and IFNGR1 gene polymorphisms in children with nonresponse to the hepatitis B vaccine

Future Virology, 2014

DOI 10.2217/fvl.13.124 3 citations (OpenAlex) Source : ORCID

Relationship Between IL1 beta-511C > T and ILRN VNTR Polymorphisms and Keratoconus

Cornea, 2014

DOI 10.1097/ico.0000000000000027 PMID 24322806 19 citations (Europe PMC) Source : ORCID

A novel mutation in two families with pycnodysostosis

Clinical Dysmorphology, 2013

DOI 10.1097/mcd.0b013e3283619632 PMID 23689398 10 citations (Europe PMC) Source : ORCID

Mannose-binding lectin codon 54 gene polymorphism in relation to risk of nosocomial invasive fungal infection in preterm neonates in the neonatal intensive care unit

The Journal of Maternal-Fetal & Neonatal Medicine, 2011

DOI 10.3109/14767058.2010.536865 PMID 21142772 15 citations (Europe PMC) Source : ORCID

AO-27. Mannose-binding lectin (MBL) codon 54 gene polymorphism in relation to risk of nosocomial invasive fungal infection in preterm neonates in the neonatal intensive care unit

Early Human Development, 2010

DOI 10.1016/j.earlhumdev.2010.09.035 Source : OpenAlex