Detalhe da pesquisa
1.
Expanding the KIF4A-associated phenotype.
Am J Med Genet A
; 185(12): 3728-3739, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34346154
2.
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
Am J Med Genet A
; 182(3): 513-520, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31880405
3.
Epilepsy, neuropsychiatric phenotypes, neuroimaging findings, and genotype-neurophenotype correlation in 22q11.2 deletion syndrome.
Neurosciences (Riyadh)
; 25(4): 287-291, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33130809
4.
Variable clinical course of identical twin neonates with Alström syndrome presenting coincidentally with dilated cardiomyopathy.
Am J Med Genet A
; 173(6): 1687-1689, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28407410
5.
A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation.
Neurol Genet
; 8(4): e200010, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35821753
6.
Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course.
Brain Commun
; 3(3): fcab183, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34557665