Found: 8
Select item for more details and to access through your institution.
The neurological core features of the infantile‐onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.
- Published in:
- Journal of the Peripheral Nervous System, 2024, v. 29, n. 2, p. 279, doi. 10.1111/jns.12636
- By:
- Publication type:
- Article
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.
- Published in:
- Journal of the Peripheral Nervous System, 2023, v. 28, n. 4, p. 620, doi. 10.1111/jns.12602
- By:
- Publication type:
- Article
Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia.
- Published in:
- Medicina (1010660X), 2022, v. 58, n. 8, p. 1113, doi. 10.3390/medicina58081113
- By:
- Publication type:
- Article
Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions.
- Published in:
- Genes, 2021, v. 12, n. 9, p. 1395, doi. 10.3390/genes12091395
- By:
- Publication type:
- Article
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
- Published in:
- Human Genetics, 2021, v. 140, n. 4, p. 625, doi. 10.1007/s00439-020-02231-6
- By:
- Publication type:
- Article
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1353
- By:
- Publication type:
- Article
Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature.
- Published in:
- Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01955
- By:
- Publication type:
- Article