Found: 20
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A novel homozygous missense variant in TBC1D31 in a consanguineous family with congenital anomalies of the kidney and urinary tract (CAKUT).
- Published in:
- Clinical Genetics, 2023, v. 104, n. 6, p. 679, doi. 10.1111/cge.14406
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- Article
A rare cause of relapsing thrombocytopenia during childhood: Congenital thrombotic thrombocytopenic purpura.
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- Ümraniye Pediatri Dergisi, 2023, v. 3, n. 3, p. 168, doi. 10.14744/upd.2023.73792
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- Article
Clinical Characteristics of Children with Neurodevelopmental Delay and Pathogenic Copy Number Variations in Chromosomal Microarray Analysis.
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- Journal of the Child / Çocuk Dergisi, 2022, v. 22, n. 3, p. 151, doi. 10.26650/jchild.2022.1112958
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- Article
Evaluation and Long-term Monitoring of Patients with MODY, and Description of Novel Mutations.
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- Journal of Academic Research in Medicine, 2022, v. 12, n. 2, p. 99, doi. 10.4274/jarem.galenos.2022.26818
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- Article
Clinical findings and molecular diagnosis in children with Bardet-Biedl Syndrome in Turkey: Identification of novel variants.
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- Gulhane Medical Journal, 2022, v. 64, n. 2, p. 144, doi. 10.4274/gulhane.galenos.2021.73745
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- Article
Familial early-onset obesity in Turkish children: variants and polymorphisms in the melanocortin-4 receptor (MC4R) gene.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 5, p. 657, doi. 10.1515/jpem-2021-0756
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- Article
Clinical Utility of Molecular Autopsy in Fetal and Pediatric Patients with Suspected Genetic Disorders.
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- Gümüshane Üniversitesi Saglik Bilimleri Dergisi, 2022, v. 11, n. 1, p. 82, doi. 10.37989/gumussagbil.1078850
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- Article
Evaluation of Clinical and Molecular Findings in a Group of Turkish Individuals with Marfan Syndrome.
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- Medical Journal of Istanbul Kanuni Sultan Süleyman / İstanbul Kanuni Sultan Süleyman Tıp Dergisi, 2022, v. 14, n. 1, p. 8, doi. 10.14744/iksstd.2021.08860
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- Article
Vitamin D-dependent rickets type IIA caused by a novel missense variant in the VDR gene and successfully treated via peripheral route.
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- Ümraniye Pediatri Dergisi, 2022, v. 2, n. 1, p. 24, doi. 10.14744/upd.2022.69875
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- Article
Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity.
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- Journal of Child Neurology, 2021, v. 36, n. 10, p. 816, doi. 10.1177/08830738211004736
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- Article
Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases.
- Published in:
- Clinical Rheumatology, 2021, v. 40, n. 6, p. 2327, doi. 10.1007/s10067-020-05492-8
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- Article
Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum.
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- Molecular Syndromology, 2021, v. 12, n. 2, p. 106, doi. 10.1159/000513078
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- Article
Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases.
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- Clinical Rheumatology, 2020, v. 39, n. 12, p. 3733, doi. 10.1007/s10067-020-05108-1
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- Article
H syndrome with a novel homozygous SLC29A3 mutation in two sisters.
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- Pediatric Dermatology, 2020, v. 37, n. 6, p. 1135, doi. 10.1111/pde.14322
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- Article
Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20).
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- Molecular Syndromology, 2020, v. 11, n. 1, p. 38, doi. 10.1159/000505141
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- Article
Peters Plus syndrome: a recognizable clinical entity.
- Published in:
- Turkish Journal of Pediatrics, 2020, v. 62, n. 1, p. 136, doi. 10.24953/turkjped.2020.01.020
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- Article
Cockayne sendromu tanısı konan bir hastada klasik ve prenatal tiplerin örtüşen kliniği.
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- Cocuk Sagligi ve Hastaliklari Dergisi, 2019, v. 62, n. 3/4, p. 61
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- Article
Varicella-Related Hospitalizations Among Immunocompetent and Immunocompromised Children in Pre-Vaccine Era: A Tertiary Care Center Experience in Turkey.
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- Journal of Pediatric Research, 2018, v. 5, n. 1, p. 11, doi. 10.4274/jpr.03274
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- Article
Anauxetic dysplasia: A rare clinical entity.
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- Turkish Journal of Pediatrics, 2018, v. 60, n. 1, p. 89, doi. 10.24953/turkjped.2018.01.014
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- Article
Monogenik diyabet.
- Published in:
- Cocuk Sagligi ve Hastaliklari Dergisi, 2016, v. 59, n. 3, p. 140
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- Article