Detalhe da pesquisa
1.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Am J Hum Genet
; 104(6): 1210-1222, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079897
2.
Improvement in cystic fibrosis newborn screening program outcomes with genetic counseling via telemedicine.
Pediatr Pulmonol
; 58(12): 3478-3486, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37712603
3.
A pathogenic role for germline PTEN variants which accumulate into the nucleus.
Eur J Hum Genet
; 26(8): 1180-1187, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29706633