Found: 16
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Surgical management of pediatric intracranial cerebral cavernous malformations: a 10-year single-center experience.
- Published in:
- Journal of Neurosurgical Sciences, 2024, v. 68, n. 3, p. 278, doi. 10.23736/s0390-5616.22.05574-6
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- Article
Successful treatment with MEK‐inhibitor in a patient with NRAS‐related cutaneous skeletal hypophosphatemia syndrome.
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- Genes, Chromosomes & Cancer, 2022, v. 61, n. 12, p. 740, doi. 10.1002/gcc.23092
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- Article
First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 20, p. 7707, doi. 10.3390/ijms21207707
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- Article
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 119, doi. 10.3390/genes14010119
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- Article
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 962, doi. 10.3390/genes12070962
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- Article
Two Italian Patients with ELOVL4 -Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization.
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- Genes, 2021, v. 12, n. 3, p. 343, doi. 10.3390/genes12030343
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- Article
Netherton syndrome plus atopic dermatitis: Two new genetic mutations in the same patient.
- Published in:
- 2021
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- Publication type:
- Case Study
Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03196-9
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- Article
Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.
- Published in:
- Biomedicines, 2022, v. 10, n. 6, p. 1460, doi. 10.3390/biomedicines10061460
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- Article
Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.
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- Dermatology (10188665), 2024, v. 240, n. 3, p. 397, doi. 10.1159/000536366
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- Article
Expanding the KIF4A‐associated phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3728, doi. 10.1002/ajmg.a.62443
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- Publication type:
- Article
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2719, doi. 10.1002/ajmg.a.62362
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- Article
A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ‐related phenotype and suggests further observations.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1791, doi. 10.1002/ajmg.a.61605
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- Article
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1073, doi. 10.1002/ajmg.a.61524
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- Publication type:
- Article
Small 4p16.3 deletions: Three additional patients and review of the literature.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2501, doi. 10.1002/ajmg.a.40512
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- Publication type:
- Article
A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1612
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- Publication type:
- Article