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Ailevi Hiperkolesterolemili Hastaların Mutasyon Analiz Sonuçlarının Simone-Broome Kriterleriyle Değerlendirilmesi.
- Published in:
- Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2015, v. 9, n. 3, p. 176, doi. 10.12956/tjpd.2015.145
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- Publication type:
- Article
An Unusual Case of Biotinidase Deficiency with Fingertip Desquamation.
- Published in:
- Turkish Journal of Dermatology / Turk Dermatoloji Dergisis, 2021, v. 15, n. 3, p. 74, doi. 10.4103/tjd.tjd_34_21
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- Publication type:
- Article
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
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- 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
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- 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
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- 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
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- Publication type:
- Article
Reply to ‘contribution of the MRPS22 variant and a down mosaic to the phenotype’.
- Published in:
- 2018
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- Publication type:
- Letter to the Editor
Investigation of androgen receptor gene CAG repeat length polymorphism in pubertal gynecomastia.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 3, p. 349, doi. 10.1515/jpem-2021-0441
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- 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
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- Publication type:
- Article
Evaluation and identification of IDUA gene mutations in Turkish patients with mucopolysaccharidosis type I.
- Published in:
- Turkish Journal of Medical Sciences, 2016, v. 46, n. 2, p. 404, doi. 10.3906/sag-1411-160
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- 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
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- Publication type:
- Article
Detection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish population.
- Published in:
- Turkish Journal of Pediatrics, 2020, v. 62, n. 1, p. 19, doi. 10.24953/turkjped.2020.01.003
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- Publication type:
- Article
Polymorphisms in FAS and CASP8 genes may contribute to the development of ALPS phenotype: a study in 25 patients with probable ALPS.
- Published in:
- Turkish Journal of Pediatrics, 2015, v. 57, n. 2, p. 141
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- Publication type:
- Article
Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation.
- Published in:
- Turkish Journal of Pediatrics, 2013, v. 55, n. 6, p. 633
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- Publication type:
- Article
SLCA29A3 gene defect in a patient with autoinflammatory disease and pure red blood cell aplasia: H syndrome.
- Published in:
- Turkish Journal of Immunology, 2016, v. 4, p. 54
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- Publication type:
- Article
Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 3, p. 308, doi. 10.1111/cge.14002
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- Publication type:
- Article
Isovaleric Acidemia Presenting as Diabetic Ketoacidosis: A Case Report.
- Published in:
- 2014
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- Publication type:
- Case Study