Detalhe da pesquisa
1.
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
Am J Hum Genet
; 103(6): 995-1008, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30471718
2.
Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.
Am J Hum Genet
; 102(5): 973-984, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29727693
3.
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
Am J Hum Genet
; 100(1): 160-168, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28041644
4.
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
Nat Commun
; 11(1): 5520, 2020 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33139725
5.
Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice.
Circ Genom Precis Med
; 2019 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31638833