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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.
- Published in:
- 2015
- By:
- Publication type:
- journal article
The association of RANK gene C421T and C575T polymorphisms with bone mineral density in postmenopausal Turkish women.
- Published in:
- Archives of Gynecology & Obstetrics, 2013, v. 288, n. 4, p. 917, doi. 10.1007/s00404-013-2831-y
- By:
- Publication type:
- Article
Intracranial Bleeding in a Female Hemophilia Patient: Molecular Analysis of the Factor 8 Gene and Determination of a Novel Mutation.
- Published in:
- Turkish Journal of Hematology, 2018, v. 35, n. 3, p. 202, doi. 10.4274/tjh.2017.0385
- By:
- Publication type:
- Article
A case of acute lymphoblastic leukemia with additional chromosomes X and 5 associated with a Philadelphia chromosome in the bone marrow.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
A Novel Molecular Indicator for Inhibitor Development in Haemophilia A.
- Published in:
- Journal of Pediatric Research, 2021, v. 8, n. 2, p. 102, doi. 10.4274/jpr.galenos.2020.59354
- By:
- Publication type:
- Article
Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings.
- Published in:
- Journal of Pediatric Research, 2020, v. 7, n. 4, p. 267, doi. 10.4274/jpr.galenos.2019.38278
- By:
- Publication type:
- Article
Evaluation of Six Patients with Chromosome 18 Structural Anomalies and Novel Findings.
- Published in:
- Journal of Pediatric Research, 2020, v. 7, n. 4, p. 267, doi. 10.4274/jpr.galenos.2019.38278
- By:
- Publication type:
- Article
Clinical Features of COVID-19 in Children.
- Published in:
- Journal of Pediatric Research, 2020, v. 7, n. 2, p. 88, doi. 10.4274/jpr.galenos.2020.60437
- By:
- Publication type:
- Article
The Effect of Exercise on Bone Mineral Density in Patients with Down Syndrome.
- Published in:
- Journal of Pediatric Research, 2018, v. 5, n. 3, p. 1, doi. 10.4274/jpr.66588
- By:
- Publication type:
- Article
Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey.
- Published in:
- Journal of Pediatric Research, 2018, v. 5, p. 34, doi. 10.4274/jpr.36025
- By:
- Publication type:
- Article
Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria.
- Published in:
- Journal of Pediatric Research, 2018, v. 5, p. 39, doi. 10.4274/jpr.59454
- By:
- Publication type:
- Article
Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience.
- Published in:
- Journal of Pediatric Research, 2018, v. 5, p. 22, doi. 10.4274/jpr.75046
- By:
- Publication type:
- Article
Down Sendromlu Çocuklarda Hematolojik Maligniteler: Geçici Lösemi ve Akut Megakaryoblastik Lösemi.
- Published in:
- Journal of Pediatric Research, 2015, v. 2, n. 1, p. 46, doi. 10.4274/jpr.27146
- By:
- Publication type:
- Article
What is the Role of Mannose-Binding Lectin ID Gene Polymorphism in the Development of Acute Post-Streptococcal Glomerulonephritis?
- Published in:
- Journal of Dr. Behcet Uz Children's Hospital, 2021, v. 11, n. 3, p. 286, doi. 10.5222/buchd.2021.46693
- By:
- Publication type:
- Article
Farklı mutasyonlar taşıyan Apert sendromlu iki olgu: erken tanının önemi.
- Published in:
- Türk Pediatri Arşivi, 2017, v. 52, n. 4, p. 231, doi. 10.5152/TurkPediatriArs.2016.3305
- By:
- Publication type:
- Article
Nadir bir seks kromozom bozukluğu: 48,XXYY sendromu.
- Published in:
- Türk Pediatri Arşivi, 2016, v. 51, n. 2, p. 106, doi. 10.5152/TurkPediatriArs.2016.1551
- By:
- Publication type:
- Article
Lifetime Prevalence and Correlates of Schizophrenia and Disorders with Psychotic Symptoms in the General Population of Izmir, Turkey.
- Published in:
- Turk Psikiyatri Dergisi, 2012, v. 23, n. 3, p. 149, doi. 10.5080/u6783
- By:
- Publication type:
- Article
Türk populasyonunda MMP2 ve MMP9 değişimlerinin spontan abortus etiyolojisindeki rolü.
- Published in:
- Ege Journal of Medicine, 2024, v. 63, n. 2, p. 177, doi. 10.19161/etd.1262494
- By:
- Publication type:
- Article
Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 363, doi. 10.1159/000524391
- By:
- Publication type:
- Article
Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment.
- Published in:
- Hormone Research in Paediatrics, 2017, v. 87, n. 2, p. 81, doi. 10.1159/000452995
- By:
- Publication type:
- Article
Is BDNF‐Val66Met polymorphism associated with psychotic experiences and psychotic disorder outcome? Evidence from a 6 years prospective population‐based cohort study.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2019, v. 180, n. 2, p. 113, doi. 10.1002/ajmg.b.32641
- By:
- Publication type:
- Article
The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 4, p. 417, doi. 10.1515/jpem-2020-0410
- By:
- Publication type:
- Article
Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 10, p. 1245, doi. 10.1515/jpem-2020-0056
- By:
- Publication type:
- Article
Psychiatric view for disorders of sex development: a 12-year experience of a multidisciplinary team in a university hospital.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 3, p. 605, doi. 10.1515/jpem-2019-0513
- By:
- Publication type:
- Article
Mannose-binding lectin may affect pregnancy outcome.
- Published in:
- Turkish Journal of Pediatrics, 2015, v. 57, n. 1, p. 26
- By:
- Publication type:
- Article
MicroRNA Expression Profile in the Prenatal Amniotic Fluid Samples of Pregnant Women with Down Syndrome.
- Published in:
- Balkan Medical Journal, 2018, v. 35, n. 2, p. 163, doi. 10.4274/balkanmedj.2017.0511
- By:
- Publication type:
- Article
The Change of Perinatal Mortality Over Three Decades in a Reference Centre in the Aegean Region: Neonatal Mortality has decreased but Foetal Mortality Remains Unchanged.
- Published in:
- Balkan Medical Journal, 2017, v. 34, n. 6, p. 553, doi. 10.4274/balkanmedj.2016.0870
- By:
- Publication type:
- Article
HAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosis.
- Published in:
- British Journal of Haematology, 2017, v. 177, n. 4, p. 597, doi. 10.1111/bjh.14574
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- Publication type:
- Article
Homozygous c.130-131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Chromosomal Abnormalities in 344 Patients who Were Referred to Cytogenetics Laboratory with Pre-Diagnosis of Short Stature, Turner Syndrome and Sex Developmental Disorders.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 91
- By:
- Publication type:
- Article
RET Mutation Spectrum in Turkish Cases with Medullary Thyroid Carcinoma: Definition of a Novel K710R Mutation.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 90
- By:
- Publication type:
- Article
Genotype-Phenotype Correlation of Congenital Adrenal Hyperplasia Cases Having Complex (Multiple) Mutation Detected in CYP21A2 Gene.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 88
- By:
- Publication type:
- Article
Phenotype-Genotype Correlations in Bardet-Biedl Syndrome Patients with Molecular Analysis.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 82
- By:
- Publication type:
- Article
Prevalence and Molecular Characteristics of Y Chromosome Microdeletions in Infertile Males: A Single-Center Study.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 74
- By:
- Publication type:
- Article
A Further Case of Hajdu-Cheney Syndrome Having a Novel Mutation in the NOTCH2 Gene.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 74
- By:
- Publication type:
- Article
A Rare GCMB Gene Mutation in an Isolated Hypoparathyroidism Case.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 59
- By:
- Publication type:
- Article
Olfactory Sulcus Hypoplasia Images in a Case of Kallmann Syndrome.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 49
- By:
- Publication type:
- Article
A Case of Dyskeratosis Congenita Associated with Hypothyroidism and Hypogonadism.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 42
- By:
- Publication type:
- Article
The Usage of Genetic Technologies in Endocrine Diseases.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 23
- By:
- Publication type:
- Article
Psychiatric Approaches for Disorders of Sex Development: Experience of a Multidisciplinary Team.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2013, v. 5, n. 4, p. 229, doi. 10.4274/Jcrpe.1044
- By:
- Publication type:
- Article
Testing the Psychosis Continuum: Differential Impact of Genetic and Nongenetic Risk Factors and Comorbid Psychopathology Across the Entire Spectrum of Psychosis.
- Published in:
- Schizophrenia Bulletin, 2012, v. 38, n. 5, p. 992, doi. 10.1093/schbul/sbr003
- By:
- Publication type:
- Article
Izmir Mental Health Cohort for Gene-Environment Interaction in Psychosis (TürkSch): Assessment of the Extended and Transdiagnostic Psychosis Phenotype and Analysis of Attrition in a 6-Year Follow-Up of a Community-Based Sample.
- Published in:
- Frontiers in Psychiatry, 2019, p. 1, doi. 10.3389/fpsyt.2019.00554
- By:
- Publication type:
- Article
Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey.
- Published in:
- Metabolic Brain Disease, 2018, v. 33, n. 4, p. 1223, doi. 10.1007/s11011-018-0236-0
- By:
- Publication type:
- Article
Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation.
- Published in:
- Metabolic Brain Disease, 2014, v. 29, n. 3, p. 809, doi. 10.1007/s11011-014-9552-1
- By:
- Publication type:
- Article
BCG, Yeni TB Aşılan ve PPD.
- Published in:
- Journal of Pediatric Infection / Çocuk Enfeksiyon Dergisi, 2008, v. 2, p. 1
- By:
- Publication type:
- Article
Purpura Fulminans with Transient Protein C and Protein S Deficiency.
- Published in:
- Journal of Pediatric Infection / Çocuk Enfeksiyon Dergisi, 2008, v. 2, n. 3, p. 124
- By:
- Publication type:
- Article
Clinical and Molecular Spectrum of Tuberous Sclerosis Complex Patients: Identification of Three Novel Mutations.
- Published in:
- Erciyes Medical Journal / Erciyes Tip Dergisi, 2021, v. 43, n. 1, p. 54, doi. 10.14744/etd.2020.49765
- By:
- Publication type:
- Article
Smith-Lemli-Opitz Sendromu: Olgu Sunumu.
- Published in:
- Erciyes Medical Journal / Erciyes Tip Dergisi, 2013, v. 35, n. 2, p. 83, doi. 10.5152/etd.2013.10
- By:
- Publication type:
- Article
The Role of Hematological Parameters in Children with COVID-19, MIS-C, and Other Viral Infections.
- Published in:
- Journal of Behcet Uz Children's Hospital, 2023, v. 13, n. 3, p. 160, doi. 10.4274/jbuch.galenos.2023.21703
- By:
- Publication type:
- Article
Clinical Contribution of Next-Generation Sequencing Multigene Panel Testing for BRCA Negative High-Risk Patients With Breast Cancer.
- Published in:
- 2021
- By:
- Publication type:
- journal article