Found: 9
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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
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- Publication type:
- Article
Von Hippel-Lindau Disease: The Importance of Retinal Hemangioblastomas in Diagnosis.
- Published in:
- Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2017, v. 47, n. 3, p. 180, doi. 10.4274/tjo.90912
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- Publication type:
- Article
20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey.
- Published in:
- Turkish Journal of Medical Sciences, 2021, v. 51, n. 4, p. 1775, doi. 10.3906/sag-2006-103
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- Publication type:
- Article
Phenotype-Genotype Correlations in Bardet-Biedl Syndrome Patients with Molecular Analysis.
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- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 82
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- Publication type:
- Article
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
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- Publication type:
- journal 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
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- Publication type:
- Article
Clinical Contribution of Next-Generation Sequencing Multigene Panel Testing for BRCA Negative High-Risk Patients With Breast Cancer.
- Published in:
- 2021
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- Publication type:
- journal article
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2020, v. 12, n. 1, p. 113, doi. 10.4274/jcrpe.galenos.2019.2019.0023
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- Publication type:
- Article
Phenotype-Genotype Correlations in Bardet-Biedl Syndrome Patients with Molecular Analysis.
- Published in:
- 2015
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- Publication type:
- Abstract