Found: 14
Select item for more details and to access through your institution.
Should isolated Pseudo‐Bartter syndrome be considered a CFTR‐related disorder of infancy?
- Published in:
- Pediatric Pulmonology, 2019, v. 54, n. 10, p. 1578, doi. 10.1002/ppul.24433
- By:
- Publication type:
- Article
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2614, doi. 10.1002/ajmg.a.36115
- By:
- Publication type:
- Article
Population Genetic Screening for Alpha1-Antitrypsin Deficiency in a High-Prevalence Area.
- Published in:
- Respiration, 2011, v. 82, n. 5, p. 418, doi. 10.1159/000325067
- By:
- Publication type:
- Article
Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.
- Published in:
- Human Genetics, 2000, v. 106, n. 1, p. 73, doi. 10.1007/s004390051012
- By:
- Publication type:
- Article
Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the γ[subC]-JAK3 signaling pathway as a model.
- Published in:
- Immunological Reviews, 2000, v. 178, n. 1, p. 39, doi. 10.1034/j.1600-065x.2000.17812.x
- By:
- Publication type:
- Article
Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease–spectrum phenotype.
- Published in:
- Clinical Kidney Journal, 2024, v. 17, n. 2, p. 1, doi. 10.1093/ckj/sfae026
- By:
- Publication type:
- Article
The Glucocorticoid Receptor Regulates the Binding of C/EPBβ on the Alpha-1-Acid Glycoprotein Promoter In Vivo.
- Published in:
- DNA & Cell Biology, 1997, v. 16, n. 12, p. 1467, doi. 10.1089/dna.1997.16.1467
- By:
- Publication type:
- Article
Specificity of Action of a Herpes Virus VP16/Tetracycline-Dependent Trans-Activator in Mammalian Cell Cultures.
- Published in:
- DNA & Cell Biology, 1995, v. 14, n. 8, p. 665, doi. 10.1089/dna.1995.14.665
- By:
- Publication type:
- Article
Clinical and molecular description of a Wilms tumor in a patient with tuberous sclerosis complex.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1419, doi. 10.1002/ajmg.a.34001
- By:
- Publication type:
- Article
Rapid protein-based assays for the diagnosis of T<sup>–</sup>B<sup>+</sup> severe combined immunodeficiency.
- Published in:
- British Journal of Haematology, 2001, v. 112, n. 3, p. 671, doi. 10.1046/j.1365-2141.2001.02578.x
- By:
- Publication type:
- Article
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain.
- Published in:
- Human Mutation, 2001, v. 18, n. 4, p. 355, doi. 10.1002/humu.1199
- By:
- Publication type:
- Article
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.
- Published in:
- Human Mutation, 2001, v. 18, n. 4, p. 255, doi. 10.1002/humu.1188
- By:
- Publication type:
- Article
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry.
- Published in:
- Journal of Nephrology (JNonline), 2022, v. 35, n. 2, p. 645, doi. 10.1007/s40620-021-01131-w
- By:
- Publication type:
- Article