Found: 8
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Noonan syndrome-like disorder with loose anagen hair: A second case with neuroblastoma.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1902, doi. 10.1002/ajmg.a.37082
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- Publication type:
- Article
Natural Variation of Model Mutant Phenotypes in Ciona intestinalis.
- Published in:
- PLoS ONE, 2008, v. 3, n. 6, p. 1, doi. 10.1371/journal.pone.0002344
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- Publication type:
- Article
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1068, doi. 10.1038/ejhg.2014.243
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- Publication type:
- Article
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 5, p. 563, doi. 10.1111/cge.14040
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- Publication type:
- Article
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.
- Published in:
- 2019
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- Publication type:
- journal article
Transplantation of clinical-grade human neural stem cells reduces neuroinflammation, prolongs survival and delays disease progression in the SOD1 rats.
- Published in:
- Cell Death & Disease, 2019, v. 10, n. 5, p. N.PAG, doi. 10.1038/s41419-019-1582-5
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- Publication type:
- Article
Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes.
- Published in:
- Familial Cancer, 2021, v. 20, n. 3, p. 195, doi. 10.1007/s10689-020-00217-x
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- Publication type:
- Article
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.
- Published in:
- Genes, 2019, v. 10, n. 9, p. 675, doi. 10.3390/genes10090675
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- Publication type:
- Article