Found: 16
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Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas.
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- Turkish Archives of Pediatrics, 2023, v. 58, n. 4, p. 376, doi. 10.5152/TurkArchPediatr.2023.23011
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- Article
The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients.
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- Turkish Archives of Pediatrics, 2023, v. 58, n. 1, p. 98, doi. 10.5152/TurkArchPediatr.2022.22223
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- Article
Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki‐like phenotype.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2976, doi. 10.1002/ajmg.a.62944
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- Article
Long‐term follow‐up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1639, doi. 10.1002/ajmg.a.62664
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- Article
Neurofibromatosis Type 1 in Children: A Single-Center Experience.
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- Turkish Archives of Pediatrics, 2021, v. 56, n. 4, p. 339, doi. 10.5152/TurkArchPediatr.2021.20165
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- Article
Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients.
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- Annals of Human Genetics, 2021, v. 85, n. 5, p. 155, doi. 10.1111/ahg.12422
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- Article
Effects of Long-Term Pamidronate Treatment on Bone Density and Fracture Rate in 65 Osteogenesis Imperfecta Patients.
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- Turkish Archives of Pediatrics, 2021, v. 56, n. 5, p. 474, doi. 10.5152/TurkArchPediatr.2021.21077
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- Article
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2488, doi. 10.1002/ajmg.a.62261
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- Article
Investigation of (epi)genotype causes and follow‐up manifestations in the patients with classical and atypical phenotype of Beckwith‐Wiedemann spectrum.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1721, doi. 10.1002/ajmg.a.62158
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- Article
A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of GH/IGF-1 axis and GH therapy response.
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- Turkish Journal of Pediatrics, 2021, v. 63, n. 1, p. 174, doi. 10.24953/turkjped.2021.01.022
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- Article
Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta.
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- Human Mutation, 2020, v. 41, n. 1, p. 133, doi. 10.1002/humu.23928
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- Article
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
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- Human Mutation, 2019, v. 40, n. 7, p. 842, doi. 10.1002/humu.23748
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- Article
A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR.
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- Molecular Syndromology, 2018, v. 9, n. 5, p. 266, doi. 10.1159/000491568
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- Article
Longitudinal Follow-Up of Two Patients with Dysspondyloenchondromatosis due to Novel Heterozygous Mutations in COL2A1.
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- Molecular Syndromology, 2018, v. 9, n. 3, p. 134, doi. 10.1159/000488438
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- Article
Two novel mutations in XYLT2 cause spondyloocular syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3195, doi. 10.1002/ajmg.a.38470
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- Article
A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia.
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- Molecular Syndromology, 2017, v. 8, n. 6, p. 318, doi. 10.1159/000479721
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- Article