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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
Variation in the Oxytocin Receptor Gene Is Associated With Social Cognition and ADHD.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Epidemiological analysis of Leishmania tropica strains and giemsa-stained smears from Syrian and Turkish leishmaniasis patients using Multilocus Microsatellite Typing (MLMT).
- Published in:
- PLoS Neglected Tropical Diseases, 2017, v. 11, n. 4, p. 1, doi. 10.1371/journal.pntd.0005538
- By:
- Publication type:
- Article
Medical students' opinions on career planning course: evaluations of the relationship between course and faculty attributes and student characteristics.
- Published in:
- Turkish Journal of Biochemistry / Turk Biyokimya Dergisi, 2022, v. 47, n. 4, p. 539, doi. 10.1515/tjb-2021-0299
- By:
- Publication type:
- Article
Sequencing of mutations in the serine/threonine kinase domain of the bone morphogenetic protein receptor type 2 gene causing pulmonary arterial hypertension.
- Published in:
- Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi, 2016, v. 16, n. 7, p. 491, doi. 10.5152/AnatolJCardiol.2015.6297
- By:
- Publication type:
- Article
Hereditary thrombophilia (factor V R2-mutation) as a contributing factor in premature myocardial infarction associated with pregnancy.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations.
- Published in:
- Turkish Journal of Hematology, 2020, v. 37, n. 3, p. 145, doi. 10.4274/tjh.galenos.2020.2019.0262
- By:
- Publication type:
- Article
Both Granulocytic and Non-Granulocytic Blood Cells Are Affected in Patients with Severe Congenital Neutropenia and Their Non-Neutropenic Family Members: An Evaluation of Morphology, Function, and Cell Death.
- Published in:
- Turkish Journal of Hematology, 2018, v. 35, n. 4, p. 229, doi. 10.4274/tjh.2017.016
- By:
- Publication type:
- Article
Griscelli Syndrome Presented with Status Epilepticus and Hemophagocytic Lymphohistiocytosis.
- Published in:
- 2017
- By:
- Publication type:
- Image
Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis.
- Published in:
- Journal of Pediatric Research, 2018, v. 5, p. 60, doi. 10.4274/jpr.85530
- 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
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- 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
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- Publication type:
- Article
Oksitosin ve Dikkat Eksikliği Hiperaktivite Bozukluğu İlişkisi.
- Published in:
- Journal of Pediatric Research, 2017, v. 4, n. 3, p. 103, doi. 10.4274/jpr.03371
- By:
- Publication type:
- Article
Dallı Zincirli Aminoasidopati Sonucu Gelişen Organik Asidemiler: Ege Tıp Deneyimi.
- Published in:
- Journal of Pediatric Research, 2016, v. 3, n. 2, p. 76, doi. 10.4274/jpr.76598
- By:
- Publication type:
- Article
A Mortal Complication in a Case with ID Mucopolysaccharidosis Type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage.
- Published in:
- Journal of Dr. Behcet Uz Children's Hospital, 2021, v. 11, n. 2, p. 198, doi. 10.5222/buchd.2021.26539
- By:
- Publication type:
- Article
Congenital Disorder of Glycosylation: Clinical and ID Molecular Characteristics of 9 Patients from Turkey.
- Published in:
- Journal of Dr. Behcet Uz Children's Hospital, 2020, v. 10, n. 3, p. 267, doi. 10.5222/buchd.2020.09471
- By:
- Publication type:
- Article
Tekrarlayan ketoasidoz atakları: Keton metabolizma bozuklukluğu olabilir mi?
- Published in:
- Journal of Dr. Behcet Uz Children's Hospital, 2018, v. 8, n. 2, p. 115, doi. 10.5222/buchd.2018.115
- By:
- Publication type:
- Article
46, XY cinsiyet gelişim bozukluğunun nadir bir nedeni: Persistan müller kanalı sendromu.
- Published in:
- Journal of Dr. Behcet Uz Children's Hospital, 2017, v. 7, n. 3, p. 242, doi. 10.5222/buchd.2017.242
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- 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
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- Publication type:
- Article
Geniş Psikoz Fenotipinin COMT val158met ve BDNF val66met Polimorfizmleri ile İlişkisi.
- Published in:
- Turk Psikiyatri Dergisi, 2018, v. 29, n. 4, p. 221, doi. 10.5080/u19426
- By:
- Publication type:
- Article
The Role of Molecular Karyotyping in the Genetic Etiology of Autism.
- Published in:
- Turk Psikiyatri Dergisi, 2017, v. 28, n. 3, p. 1, doi. 10.5080/u18239
- 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
Izmir Mental Health Survey for Gene-Environment Interaction in Psychoses (TürkSch): Objectives and Methodology.
- Published in:
- Turk Psikiyatri Dergisi, 2011, v. 22, n. 2, p. 1
- 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
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- Publication type:
- Article
Erişkin kalp hastalarında atlanan bir tanı: Fabry hastalığı.
- Published in:
- Archives of the Turkish Society of Cardiology / Türk Kardiyoloji Derneği Arşivi, 2017, v. 45, n. 6, p. 549, doi. 10.5543/tkda.2017.68709
- By:
- Publication type:
- Article
A Novel Mutation of <bold><italic>AMHR2</italic></bold> In Two Siblings with Persistent Müllerian Duct Syndrome.
- Published in:
- Sexual Development, 2017, v. 11, n. 5/6, p. 289, doi. 10.1159/000485882
- By:
- Publication type:
- Article
The Association Between The Extended Psychosis Phenotype and COMT val158met and BDNF val66met Polymorphisms.
- Published in:
- Turkish Journal of Psychiatry, 2018, v. 29, n. 4, p. 1, doi. 10.5080/u19426
- By:
- Publication type:
- Article
The Role of Molecular Karyotyping in the Genetic Etiology of Autism.
- Published in:
- Turkish Journal of Psychiatry, 2017, v. 28, n. 3, p. 1, doi. 10.5080/u18239
- By:
- Publication type:
- Article
Izmir Mental Health Survey for Gene-Environment Interaction in Psychoses (TürkSch): Objectives and Methodology.
- Published in:
- Turkish Journal of Psychiatry, 2011, v. 22, n. 2, p. 1
- By:
- Publication type:
- Article
Expanding the genotypic and phenotypic spectrum of the SPTBN4 gene mutation: A new variant and dysmorphology.
- Published in:
- Neurology Asia, 2023, v. 28, n. 3, p. 775, doi. 10.54029/2023unk
- By:
- Publication type:
- Article
Magnetic resonance spectroscopy to assess hepatic steatosis in patients with lipodystrophy.
- Published in:
- Turkish Journal of Gastroenterology, 2020, v. 31, n. 3, p. 588, doi. 10.5152/tjg.2020.19114
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- Publication type:
- Article
Gastrointestinal findings in 26 adults with common variable immunodeficiency: The fickle nature of the disease manifests in gastrointestinal biopsies.
- Published in:
- Turkish Journal of Gastroenterology, 2019, v. 30, n. 9, p. 789, doi. 10.5152/tjg.2019.18777
- By:
- Publication type:
- Article
Clinical and Molecular Features of Our Pompe Patients: Single-Center Experience.
- Published in:
- Medical Journal of Bakirkoy, 2020, v. 16, n. 1, p. 49, doi. 10.5222/BMJ.2020.91855
- 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
Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye.
- Published in:
- Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2024, v. 54, n. 3, p. 127, doi. 10.4274/tjo.galenos.2024.09482
- 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
ABCC8-related maturity-onset diabetes of the young: switching from insulin to sulphonylurea therapy: how long do we need for a good metabolic control?
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 6, p. 592, doi. 10.1515/jpem-2022-0642
- 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
Does Mannose-Binding Lectin Have a Role in Adult Turkish Patients with Nasal Polyposis?
- Published in:
- Otolaryngology-Head & Neck Surgery, 2012, v. 147, n. 1, p. 79, doi. 10.1177/0194599812436945
- By:
- Publication type:
- Article
Deletions in SERPING1 Lead to Lower C1 Inhibitor Function: Lower C1 Inhibitor Function Can Predict Disease Severity.
- Published in:
- International Archives of Allergy & Immunology, 2019, v. 178, n. 1, p. 50, doi. 10.1159/000492583
- By:
- Publication type:
- Article
Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovarian tissue.
- Published in:
- Turkish Journal of Pediatrics, 2020, v. 62, n. 5, p. 826, doi. 10.24953/turkjped.2020.05.015
- 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
Mannose-binding lectin gene codon 54 polymorphism susceptible to brucellosis in Turkish children.
- Published in:
- Turkish Journal of Pediatrics, 2012, v. 54, n. 3, p. 234
- By:
- Publication type:
- Article
Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 3, p. 1103, doi. 10.1007/s10072-021-05067-8
- 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
- By:
- Publication type:
- Article