Found: 27
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POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 2, p. 186, doi. 10.1111/cge.14353
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- 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
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- Publication type:
- Article
Coexistence of severe developmental delay, epilepsy, and hemangioma in Snijders Blok‐Fisher syndrome suggests the presence of a POU3F3‐related SNIBFIS endophenotype: A case report.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1554, doi. 10.1002/ajmg.a.62135
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- Article
Carbonic anhydrase VA deficiency: a very rare case of hyperammonemic encephalopathy.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 10, p. 1349, doi. 10.1515/jpem-2020-0117
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- Article
Cerebrotendinous xanthomatosis with a novel mutation in CYP27A1 gene in a Turkish patient.
- Published in:
- Annals of Medical of Research, 2020, v. 27, n. 8, p. 2200, doi. 10.5455/annalsmedres.2020.03.254
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- Article
Boy kısalığı nedeni ile takip edilen kız çocuklarında karyotip analizi sonuçlarımız.
- Published in:
- Gulhane Medical Journal, 2017, v. 59, n. 1, p. 21, doi. 10.5455/gulhane.260924
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- Publication type:
- Article
FMF hastalarındaki MEFV gen mutasyon sıklığı ve mutasyonların dağılımı: Tek bir merkezden geniş bir hasta grubunun analizi.
- Published in:
- Gulhane Medical Journal, 2017, v. 59, n. 1, p. 24, doi. 10.5455/gulhane.261519
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- Publication type:
- Article
Gene expression changes in bioceramic paste-treated human dental pulp cells.
- Published in:
- 2016
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- Publication type:
- journal article
Is Turkey a prothrombin gene mutation region similar to the Mediterranean countries?
- Published in:
- 2016
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- Publication type:
- Letter to the Editor
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
- Published in:
- 2016
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- Publication type:
- journal article
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 1, p. 1, doi. 10.1038/jhg.2014.85
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- Publication type:
- Article
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 1, p. 51, doi. 10.1038/jhg.2014.101
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- Publication type:
- Article
Mitochondrial complex I-III mRNA levels in schizophrenia: relationship between gene expressions and psychotic symptomatology.
- Published in:
- 2013
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- Publication type:
- Abstract
The relationship between mitochondrial complex I-III gene mRNA levels and clinical features of the patients with schizophrenia.
- Published in:
- 2013
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- Publication type:
- Abstract
Gorlin-chaudhry-moss syndrome revisited: Expanding the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1737, doi. 10.1002/ajmg.a.35954
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- Publication type:
- Article
Venöz tromboembolili hastalarda anjiyotensin dönüştürücü enzim I/D ve plazminojen aktivatör inhibitör-1 4G/5G gen polimorfizmlerinin araştırılması.
- Published in:
- Tuberculosis & Thorax / Tuberkoloz ve Toraks, 2013, v. 61, n. 2, p. 88, doi. 10.5578/tt.5185
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- Publication type:
- Article
Methylation of SOCS3 in Myeloproliferative Neoplasms and Secondary Erythrocytosis/Thrombocythemia.
- Published in:
- Turkish Journal of Hematology, 2013, v. 30, n. 1, p. 13, doi. 10.4274/tjh.98474
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- Publication type:
- Article
Rheumatic and Autoimmune Diseases May Have a Role in Disease Progression of Myelodysplastic Syndrome.
- Published in:
- Turkiye Klinikleri Journal of Medical Sciences, 2012, v. 32, n. 4, p. 910, doi. 10.5336/medsci.2011-24201
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- Publication type:
- Article
BDNF and GAD<sub>65</sub> Responses of Primary Auditory Cortex and Inferior Colliculus to Noise Exposure and Cochlear Ablation.
- Published in:
- Journal of International Advanced Otology, 2012, v. 8, n. 2, p. 187
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- Publication type:
- Article
Miyelodisplastik sendromlu olguda i(17q): nadir görülen önemli bir kromozomal anomali.
- Published in:
- Gulhane Medical Journal, 2011, v. 53, n. 4, p. 301
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- Publication type:
- Article
Miyelodisplastik sendrom olgularında sitogenetik analiz sonuçlarının hasta prognozuna etkisi.
- Published in:
- Gulhane Medical Journal, 2011, v. 53, n. 2, p. 104
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- Publication type:
- Article
A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis.
- Published in:
- Turkish Journal of Pediatrics, 2011, v. 53, n. 3, p. 346
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- Publication type:
- Article
Akut miyeloblastik lösemili olguda trizomi 8, trizomi 9 ve trizomi 21 sitogenetik bulgularının birlikteliği.
- Published in:
- Gulhane Medical Journal, 2010, v. 52, n. 4, p. 287
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- Publication type:
- Article
Rare chromosomal complement of trisomy 21 in a boy conceived only by IVF.
- Published in:
- 2010
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- Publication type:
- Letter
High frequency of MEFV gene mutations in patients with myeloid neoplasm.
- Published in:
- 2010
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- Publication type:
- journal article
ÜÇ ADET HEMİFASİYAL MİKROSOMİA HASTASI VE LİTERATÜRÜN GÖZDEN GEÇİRİLMESİ.
- Published in:
- Anatolian Journal of Clinical Investigation, 2009, v. 3, n. 4, p. 252
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- Publication type:
- Article
Prenatal diagnosis of Cri-du chat syndrome following high maternal serum human chorionic gonodotrophin and choroid plexus cysts.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 5, p. 536, doi. 10.1002/pd.2224
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- Publication type:
- Article