Detalhe da pesquisa
1.
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.
Hum Mol Genet
; 29(14): 2435-2450, 2020 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32620954
2.
Temperature-activated ion channels in neural crest cells confer maternal fever-associated birth defects.
Sci Signal
; 10(500)2017 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29018170
3.
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Nat Genet
; 49(2): 238-248, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28067909
4.
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Nat Genet
; 49(6): 969, 2017 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28546579