Found: 4
Select item for more details and to access through your institution.
Two novel deleterious variants of Angiotensin‐I‐converting Enzyme gene identified in a family with recurrent anhydramnios.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 6, p. 1, doi. 10.1002/mgg3.1239
- By:
- Publication type:
- Article
Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0124921
- By:
- Publication type:
- Article
A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia
- Published in:
- Cardiovascular Research, 2007, v. 76, n. 3, p. 409, doi. 10.1016/j.cardiores.2007.08.006
- By:
- Publication type:
- Article
A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01090-2
- By:
- Publication type:
- Article