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1.
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.
Hum Mol Genet;
29(18): 3054-3063, 2020 11 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-32885237
2.
Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data.
Genet Med;
20(9): 942-949, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29388948
3.
Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.
J Clin Med;
10(17)2021 Aug 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-34501319
4.
Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective.
Neurol Genet;
6(2): e408, 2020 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-32337335
5.
Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene.
Mol Genet Metab Rep;
9: 19-24, 2016 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-27699154
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