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1.
Evidence for genetic heterogeneity in Carvajal syndrome.
Cell Tissue Res;
348(2): 261-4, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22350851
2.
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.
Mol Diagn Ther;
26(5): 551-560, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35838873
3.
A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field.
Eur J Hum Genet;
24(2): 228-36, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26014430
4.
A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects.
PLoS One;
10(6): e0127903, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26061005
5.
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Nat Genet;
47(11): 1260-3, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-26437028
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