Found: 19
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Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels.
- Published in:
- Molecular Syndromology, 2024, v. 15, n. 1, p. 14, doi. 10.1159/000533976
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- Publication type:
- Article
TLR Polymorphisms in FMF: Association of TLR-2 (Arg753Gln) and TLR-4 (Asp299Gly, Thre399Ile) Polymorphisms and Myeloid Cell TLR-2 and TLR-4 Expression with the Development of Secondary Amyloidosis in FMF.
- Published in:
- Inflammation, 2011, v. 34, n. 5, p. 379, doi. 10.1007/s10753-010-9245-9
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- Article
Clinical and Molecular Analysis in Patients with Peutz-Jeghers Syndrome.
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- Turkish Journal of Gastroenterology, 2024, v. 35, n. 5, p. 374, doi. 10.5152/tjg.2024.23262
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- Article
Prevalence of Mediterranean Fever Gene Mutations in Turkish Cypriot Population.
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- Archives of Rheumatology, 2017, v. 32, n. 1, p. 10, doi. 10.5606/ArchRheumatol.2017.5791
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- Publication type:
- Article
Prevalence of Mediterranean Fever Gene Mutations in Turkish Cypriot Population.
- Published in:
- Archives of Rheumatology, 2017, v. 32, n. 1, p. 10, doi. 10.5606/ArchRheumatol.2017.5791
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- Publication type:
- Article
Clinical Significance of R202Q Alteration of MEFV Gene in Children With Familial Mediterranean Fever.
- Published in:
- Archives of Rheumatology, 2015, v. 30, n. 1, p. 51, doi. 10.5606/ArchRheumatol.2015.4455
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- Publication type:
- Article
The association of beta-fibrinogen 455 G/A gene polymorphism with left atrial thrombus and severe spontaneous echo contrast in atrial fibrillation.
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- Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi, 2010, v. 10, n. 3, p. 209, doi. 10.5152/akd.2010.059
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- Publication type:
- Article
Spinal Muscular Atrophy Results and Comparison of Commonly Used Methods.
- Published in:
- Gazi Medical Journal, 2019, v. 30, n. 4, p. 381, doi. 10.12996/gmj.2019.98
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- Publication type:
- Article
ADAM33 Gene Polymorphisms Are Not Associated with Asthma in Turkish Children.
- Published in:
- 2012
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- Publication type:
- Journal Article
Chromosomal Evaluation Results for Transgender Individuals and Questioning the Necessity of Karyotyping.
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- Erciyes Medical Journal / Erciyes Tip Dergisi, 2021, v. 43, n. 2, p. 166, doi. 10.14744/etd.2020.67915
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- Publication type:
- Article
Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development.
- Published in:
- Turkish Journal of Medical Sciences, 2020, v. 50, n. 6, p. 1573, doi. 10.3906/sag-1901-170
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- Publication type:
- Article
Phenotypic spectrum of CHARGE syndrome based on clinical characteristics.
- Published in:
- Turkish Journal of Medical Sciences, 2018, v. 48, n. 5, p. 911, doi. 10.3906/sag-1611-107
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- Publication type:
- Article
Horseshoe kidney with growth retardation: Don't forget Turner syndrome.
- Published in:
- 2016
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- Publication type:
- Case Study
Identification of PCDH19 gene mutations/deletions in patients with early onset epilepsy.
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- Annals of Indian Academy of Neurology, 2020, v. 23, n. 2, p. 206, doi. 10.4103/aian.AIAN_465_19
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- Publication type:
- Article
Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report.
- Published in:
- 2023
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- Publication type:
- journal article
Serum motilin levels and motilin gene polymorphisms in children with functional constipation.
- Published in:
- Minerva Pediatrics, 2021, v. 73, n. 5, p. 420, doi. 10.23736/S2724-5276.16.04369-X
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- Publication type:
- Article
Risk factors for subclinical inflammation in children with Familial Mediterranean fever.
- Published in:
- Rheumatology International, 2015, v. 35, n. 8, p. 1393, doi. 10.1007/s00296-015-3227-z
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- Publication type:
- Article
Myalgia as a symptom of familial Mediterranean fever in children.
- Published in:
- 2012
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- Publication type:
- Letter
Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2 years experience of a single center.
- Published in:
- International Journal of Developmental Neuroscience, 2023, v. 83, n. 5, p. 456, doi. 10.1002/jdn.10278
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- Publication type:
- Article