Detalhe da pesquisa
1.
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Am J Hum Genet
; 107(3): 544-554, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32730804
2.
Malignant Hyperthermia-Associated Rhabdomyolysis After Succinylcholine: A Case Report.
S D Med
; 74(1): 17-20, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33691052
3.
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(5): 878-888, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31949314
4.
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(4): 822, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32047287
5.
Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures.
Eur J Med Genet
; 63(4): 103850, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31954878