Detalhe da pesquisa
1.
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.
Am J Hum Genet
; 102(6): 1018-1030, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29754768
2.
A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.
Am J Med Genet A
; 182(5): 987-993, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32144877
3.
Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature.
BMC Med Genet
; 20(1): 53, 2019 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30922245