Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Am J Hum Genet
; 109(8): 1421-1435, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830857
2.
Deletion of dpy-19 like 2 (DPY19L2) gene is associated with total but not partial globozoospermia.
Reprod Fertil Dev
; 32(8): 727-737, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32312381
3.
Corrigendum to: Deletion of dpy-19 like 2 (DPY19L2) gene is associated with total but not partial globozoospermia.
Reprod Fertil Dev
; 32(8): 805, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32389181