Found: 34
Select item for more details and to access through your institution.
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 10, p. 675, doi. 10.1038/jhg.2013.76
- By:
- Publication type:
- Article
Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.
- Published in:
- European Journal of Pediatrics, 2015, v. 174, n. 8, p. 1077, doi. 10.1007/s00431-015-2509-5
- By:
- Publication type:
- Article
Does insulin-like growth factor influence prognosis ten months after myocardial infarction?
- Published in:
- Ortadogu Medical Journal / Ortadogu Tip Dergisi, 2020, v. 12, n. 2, p. 131, doi. 10.21601/ortadogutipdergisi.506160
- By:
- Publication type:
- Article
Scheduling jobs to consider physiological factors.
- Published in:
- Human Factors & Ergonomics in Manufacturing & Service Industries, 2012, v. 22, n. 2, p. 113, doi. 10.1002/hfm.20257
- By:
- Publication type:
- Article
Clinical highlights of a very rare phospolipid remodeling disease due to MBOAT7 gene defect.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2020, v. 183, n. 1, p. 3, doi. 10.1002/ajmg.b.32762
- By:
- Publication type:
- Article
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63645
- By:
- Publication type:
- Article
Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2954, doi. 10.1002/ajmg.a.38459
- By:
- Publication type:
- Article
Genome-Wide Homozygosity Mapping in Families with Leber Congenital Amaurosis Identifies Mutations in AIPL1 and RDH12 Genes.
- Published in:
- DNA & Cell Biology, 2014, v. 33, n. 12, p. 876, doi. 10.1089/dna.2014.2554
- By:
- Publication type:
- Article
Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency.
- Published in:
- Metabolic Brain Disease, 2019, v. 34, n. 5, p. 1487, doi. 10.1007/s11011-019-00455-8
- By:
- Publication type:
- Article
Reply to ‘contribution of the MRPS22 variant and a down mosaic to the phenotype’.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
A patient with mitochondrial disorder due to a novel mutation in MRPS22.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 5, p. 1389, doi. 10.1007/s11011-017-0074-5
- By:
- Publication type:
- Article
Farklı restoratif materyallerin tünel restorasyonların marjinal sırt dayanıklılığı üzerine etkilerinin in vitro olarak değerlendirilmesi.
- Published in:
- Cumhuriyet Dental Journal, 2013, v. 16, n. 2, p. 104, doi. 10.7126/cdj.2013.1798
- By:
- Publication type:
- Article
Is There a Relationship Between Metabolic Equivalence and the SYNTAX Score as Strong Prognostic Markers?
- Published in:
- Archives of the Turkish Society of Cardiology / Türk Kardiyoloji Derneği Arşivi, 2024, v. 52, n. 2, p. 110, doi. 10.5543/tkda.2023.20745
- By:
- Publication type:
- Article
Increased red cell distribution width level is associated with absence of coronary collateral vessels in patients with acute coronary syndromes.
- Published in:
- Archives of the Turkish Society of Cardiology / Türk Kardiyoloji Derneği Arşivi, 2013, v. 41, n. 5, p. 399, doi. 10.5543/tkda.2013.86244
- By:
- Publication type:
- Article
Serum gamma-glutamyltransferase and the burden of atherosclerosis in patients with acute coronary syndrome.
- Published in:
- Archives of the Turkish Society of Cardiology / Türk Kardiyoloji Derneği Arşivi, 2013, v. 41, n. 4, p. 275, doi. 10.5543/tkda.2013.99896
- By:
- Publication type:
- Article
Five novel <italic>ALMS1</italic> gene mutations in six patients with Alström syndrome.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 6, p. 681, doi. 10.1515/jpem-2017-0418
- By:
- Publication type:
- Article
Batı Anadolu Grabenlerinin Gelişim Süreci İçinde Selçuk Grabeni'nin Morfotektonik Evrimi.
- Published in:
- Türkiye Jeoloji Bülteni, 2023, v. 66, n. 3, p. 275, doi. 10.25288/tjb.1139766
- By:
- Publication type:
- Article
Correction to: DNAJC12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
- Published in:
- Metabolic Brain Disease, 2021, v. 36, n. 6, p. 1405, doi. 10.1007/s11011-021-00753-0
- By:
- Publication type:
- Article
Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant.
- Published in:
- Turkish Journal of Pediatrics, 2021, v. 63, n. 4, p. 691, doi. 10.24953/turkjped.2021.04.017
- By:
- Publication type:
- Article
Papillon-Lefèvre syndrome: report of three cases in the sam family.
- Published in:
- Turkish Journal of Pediatrics, 2012, v. 54, n. 2, p. 171
- By:
- Publication type:
- Article
Dursun Syndrome Due to G6PC3 Gene Defect has a Fluctuating Pattern in All Blood Cell Lines.
- Published in:
- 2014
- By:
- Publication type:
- Letter
Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 381, doi. 10.1002/jimd.12016
- By:
- Publication type:
- Article
From Shadows to Diagnosis: Unraveling L-2 Hydroxyglutaric Aciduria in Adulthood.
- Published in:
- Archives of Epilepsy, 2024, v. 30, n. 2, p. 53, doi. 10.4274/ArchEpilepsy.2024.24114
- By:
- Publication type:
- Article
Dental Treatments under the General Anesthesia in a Child with Keratitis, Ichthyosis, and Deafness Syndrome.
- Published in:
- Case Reports in Dentistry, 2013, p. 1, doi. 10.1155/2013/618468
- By:
- Publication type:
- Article
Zorunlu Yatışta Psikiyatrik ve Hukuksal Süreç.
- Published in:
- Yeni Symposium, 2013, v. 51, n. 1, p. 46
- By:
- Publication type:
- Article
The tectonic history of the Niğde-Kırşehir Massif and the Taurides since the Late Mesozoic: Paleomagnetic evidence for two-phase orogenic curvature in Central Anatolia.
- Published in:
- Tectonics, 2016, v. 35, n. 3, p. 772, doi. 10.1002/2015TC003956
- By:
- Publication type:
- Article
Impacts of the Duration and Number of Electroconvulsive Therapy (ECT) Sessions on Clinical Course and Treatment of the Patients with Major Depressive Disorder.
- Published in:
- Journal of Mood Disorders, 2016, v. 6, n. 3, p. 99, doi. 10.5455/jmood.20160824073455
- By:
- Publication type:
- Article
Altın Çilek (Physalis peruviana L.) ile tetiklenen manik atak olgusu.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
Learning Management Systems and Comparison of Open Source Learning Management Systems and Proprietary Learning Management Systems.
- Published in:
- Journal of Systems Integration (1804-2724), 2016, v. 7, n. 2, p. 18, doi. 10.20470/jsi.v7i2.255
- By:
- Publication type:
- Article
Geological correlation between northern Cyprus and southern Anatolia.
- Published in:
- Canadian Journal of Earth Sciences, 2021, v. 58, n. 7, p. 640, doi. 10.1139/cjes-2020-0129
- By:
- Publication type:
- Article
Southeast Anatolian Orogenic Belt revisited (geology and evolution).
- Published in:
- Canadian Journal of Earth Sciences, 2019, v. 56, n. 11, p. 1163, doi. 10.1139/cjes-2018-0170
- By:
- Publication type:
- Article
Holocene coastal change in the ancient harbor of Yenikapı–İstanbul and its impact on cultural history
- Published in:
- Quaternary Research, 2011, v. 76, n. 1, p. 30, doi. 10.1016/j.yqres.2011.04.002
- By:
- Publication type:
- Article
A short note on the geo-archeological significance of the ancient Theodosius harbour (İstanbul, Turkey)
- Published in:
- Quaternary Research, 2009, v. 72, n. 3, p. 457, doi. 10.1016/j.yqres.2009.09.001
- By:
- Publication type:
- Article