Detalhe da pesquisa
1.
TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.
Am J Hum Genet
; 106(2): 153-169, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31978331
2.
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.
Am J Hum Genet
; 105(1): 198-212, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31178125
3.
Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.
J Med Genet
; 57(4): 237-244, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31772028
4.
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Hum Mutat
; 40(11): 2033-2043, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31231873
5.
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
J Med Genet
; 49(6): 410-6, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22693285
6.
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.
J Clin Endocrinol Metab
; 102(1): 290-301, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27820671