Found: 7
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R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series.
- Published in:
- 2017
- By:
- Publication type:
- journal article
High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients.
- Published in:
- 2021
- By:
- Publication type:
- journal article
EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Molecular testing for fragile x: analysis of 5062 tests from 1105 fragile x families-performed in 12 clinical laboratories in Spain.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families--Performed in 12 Clinical Laboratories in Spain.
- Published in:
- BioMed Research International, 2014, v. 2014, p. 1, doi. 10.1155/2014/195793
- By:
- Publication type:
- Article
The Δ ccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 3, p. 399, doi. 10.1093/hmg/7.3.399
- By:
- Publication type:
- Article