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Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene.
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- Journal of Genetics, 2019, v. 98, n. 1, p. N.PAG, doi. 10.1007/s12041-019-1055-8
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- Article
Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 10, p. 2071, doi. 10.3390/ijms18102071
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- Article
Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 2, p. 1, doi. 10.1002/mgg3.1576
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- Article
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
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- 2008
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- Correction Notice
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
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- Journal of Human Genetics, 2007, v. 52, n. 12, p. 1011, doi. 10.1007/s10038-007-0208-4
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- Article
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
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- Genes, Chromosomes & Cancer, 2022, v. 61, n. 1, p. 10, doi. 10.1002/gcc.22997
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- Article
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
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- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1133, doi. 10.1038/ejhg.2010.59
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- Article
Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases.
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- Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00675-3
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- Article
Biological Role and Clinical Implications of microRNAs in BRCA Mutation Carriers.
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- Frontiers in Oncology, 2021, v. 12, p. 1, doi. 10.3389/fonc.2021.700853
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- Article
Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques.
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- Clinical Genetics, 2022, v. 102, n. 4, p. 314, doi. 10.1111/cge.14193
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- Article
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.
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- Pediatric Nephrology, 2011, v. 26, n. 5, p. 717, doi. 10.1007/s00467-010-1693-9
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- Article
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.
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- Nephrology Dialysis Transplantation, 2009, v. 24, n. 5, p. 1464, doi. 10.1093/ndt/gfn681
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- Article
Phenotypic Expansion of Autosomal Dominant LZTR1 -Related Disorders with Special Emphasis on Adult-Onset Features.
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- 2024
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- Case Study
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing.
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- Genes, 2024, v. 15, n. 2, p. 219, doi. 10.3390/genes15020219
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- Article
Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.
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- Genes, 2023, v. 14, n. 6, p. 1241, doi. 10.3390/genes14061241
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- Publication type:
- Article
Charcot–Marie–Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 3, p. 1654, doi. 10.3390/ijms25031654
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- Article
Cryptic 13q34 and 4q35.2 Deletions in an Italian Family.
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- Cytogenetic & Genome Research, 2016, v. 147, n. 1, p. 24, doi. 10.1159/000442068
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- Article
Mechanism of Action and Clinical Efficacy of CDK4/6 Inhibitors in BRCA-Mutated, Estrogen Receptor-Positive Breast Cancers: Case Report and Literature Review.
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- Frontiers in Oncology, 2019, p. 1, doi. 10.3389/fonc.2019.00759
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- Publication type:
- Article