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Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children.
- Published in:
- Genes, 2024, v. 15, n. 8, p. 1016, doi. 10.3390/genes15081016
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- Article
Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7.
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- Molecular Syndromology, 2023, v. 14, n. 3, p. 225, doi. 10.1159/000527777
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- Article
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.
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- Genes, 2023, v. 14, n. 7, p. 1490, doi. 10.3390/genes14071490
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- Article
Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature.
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- Children, 2024, v. 11, n. 6, p. 705, doi. 10.3390/children11060705
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- Article
Genetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient.
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- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09214-0
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- Article
Genetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient.
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- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09214-0
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- Article
Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2561, doi. 10.1002/ajmg.a.62338
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- Article
Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier.
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- Muscle & Nerve, 2024, v. 70, n. 2, p. 240, doi. 10.1002/mus.28180
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- Article