Found: 24
Select item for more details and to access through your institution.
Comparison of the optical coherence tomography-angiography (OCT-A) vascular measurements between molecularly confirmed MODY and age-matched healthy controls.
- Published in:
- Acta Diabetologica, 2024, v. 61, n. 7, p. 917, doi. 10.1007/s00592-024-02273-6
- By:
- Publication type:
- Article
Anjiyotensin Dönüştürücü Enzim (ACE1/ACE2) Gen Polimorfizmi COVID-19 Pnömonisinin Ciddiyeti Üzerine Etkili midir?
- Published in:
- Mediterranean Journal of Infection, Microbes & Antimicrobials, 2021, p. 109
- By:
- Publication type:
- Article
Two Patients Diagnosed as Succinate Dehydrogenase Deficiency: Case Report.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 2, p. 171, doi. 10.1159/000527538
- By:
- Publication type:
- Article
Regression of macular edema with topical brinzolamide and nepafenac alone and identification of a novel gyrate atrophy mutation.
- Published in:
- Arquivos Brasileiros de Oftalmologia, 2020, v. 83, n. 2, p. 149, doi. 10.5935/0004-2749.20200028
- By:
- Publication type:
- Article
Wilson Disease in a Turkish Population: Molecular Insights into an Old Disease with Reported and Novel Variants.
- Published in:
- Gazi Medical Journal, 2024, v. 35, n. 2, p. 173, doi. 10.12996/gmj.2023.3795
- By:
- Publication type:
- Article
A Rare Syndrome from Physical Examination to Diagnosis: Oculodentodigital Dysplasia.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 72
- By:
- Publication type:
- Article
Molecular Diagnosis in Spinocerebellar Ataxias.
- Published in:
- Gazi Medical Journal, 2024, v. 35, p. 35
- By:
- Publication type:
- Article
Diagnostic Yield of Molecular Karyotyping of Idiopathic Intellectual Disability Patients Ended with One Causative Anomaly; Duplication 9q34 Syndrome.
- Published in:
- Gazi Medical Journal, 2019, v. 30, n. 3, p. 252, doi. 10.12996/gmj.2019.64
- By:
- Publication type:
- Article
Widespread keratosis pilaris in a patient with Noonan syndrome with multiple lentigines.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene: case report and review of literature.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2024, v. 37, n. 3, p. 280, doi. 10.1515/jpem-2023-0411
- By:
- Publication type:
- Article
Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 9, p. 1115, doi. 10.1515/jpem-2021-0055
- By:
- Publication type:
- Article
A case with short stature and proteinuria: atypical presentation of a family with m.3243A>G mutation.
- Published in:
- Turkish Journal of Pediatrics, 2024, v. 66, n. 4, p. 490, doi. 10.24953/turkjpediatr.2024.4702
- By:
- Publication type:
- Article
Three Afghani siblings with a novel homozygous variant and further delineation of the clinical features of METTL5 related intellectual disability syndrome.
- Published in:
- Turkish Journal of Pediatrics, 2022, v. 64, n. 5, p. 956, doi. 10.24953/turkjped.2020.3992
- By:
- Publication type:
- Article
Hematopoietic stem cell transplantation complicated with EBV associated hemophagocytic lymphohistiocytosis in a patient with DOCK2 deficiency.
- Published in:
- Turkish Journal of Pediatrics, 2021, v. 63, n. 6, p. 1072, doi. 10.24953/turkjped.2021.06.016
- By:
- Publication type:
- Article
Severe isolated sulfide oxidase deficiency with a novel mutation.
- Published in:
- Turkish Journal of Pediatrics, 2021, v. 63, n. 4, p. 716, doi. 10.24953/turkjped.2021.04.021
- By:
- Publication type:
- Article
Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 8, p. 2088, doi. 10.1002/acn3.52129
- By:
- Publication type:
- Article
High diagnostic yield of targeted next‐generation sequencing panel as a first‐tier molecular test for the patients with myopathy or muscular dystrophy.
- Published in:
- Annals of Human Genetics, 2023, v. 87, n. 3, p. 104, doi. 10.1111/ahg.12492
- By:
- Publication type:
- Article
The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum.
- Published in:
- Annals of Human Genetics, 2022, v. 86, n. 3, p. 119, doi. 10.1111/ahg.12456
- By:
- Publication type:
- Article
Are angiotensin converting enzyme (ACE1/ACE2) gene variants associated with the clinical severity of COVID-19 pneumonia? A single-center cohort study.
- Published in:
- Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi, 2022, v. 26, n. 2, p. 133, doi. 10.5152/AnatolJCardiol.2021.502
- By:
- Publication type:
- Article
The effect of BRAF<sup>V600E</sup> mutation on lymph node involvement in papillary thyroid cancer.
- Published in:
- Turkish Journal of Surgery / Bilimsel Tip Yayinevi, 2020, v. 36, n. 3, p. 249, doi. 10.47717/turkjsurg.2020.4696
- By:
- Publication type:
- Article
Impact of Inflammation-Related Genes on COVID-19: Prospective Study at Turkish Cohort.
- Published in:
- Tohoku Journal of Experimental Medicine, 2023, v. 261, n. 3, p. 179, doi. 10.1620/tjem.2023.J071
- By:
- Publication type:
- Article
Contribution of Inherited Variants to Hereditary Cancer Syndrome Predisposition.
- Published in:
- Tohoku Journal of Experimental Medicine, 2022, v. 258, n. 4, p. 319, doi. 10.1620/tjem.2022.J087
- By:
- Publication type:
- Article
Feokromositomanın Nadir Bir Sebebi; Nörofibromatozis Tip 1-Noonan Sendromu.
- Published in:
- Medical Bulletin of Haseki / Haseki Tip Bulteni, 2014, v. 52, n. 3, p. 227, doi. 10.4274/haseki.1539
- By:
- Publication type:
- Article
Predictive Factors for Molecular Response in Chronic Myeloid Leukemia: Reduction Ratio and Halving Time of BCR::ABL1 IS Transcript Levels.
- Published in:
- Turkish Journal of Hematology, 2022, v. 39, n. 3, p. 196, doi. 10.4274/tjh.galenos.2022.2022-0024
- By:
- Publication type:
- Article