Detalhe da pesquisa
1.
Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.
Blood
; 138(21): 2117-2128, 2021 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34115847
2.
Disease-specific eQTL screening reveals an anti-fibrotic effect of AGXT2 in non-alcoholic fatty liver disease.
J Hepatol
; 75(3): 514-523, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33892010
3.
Association between circulating bile acid alterations and nonalcoholic steatohepatitis independent of obesity and diabetes mellitus.
Liver Int
; 41(12): 2892-2902, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34358397
4.
Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
Clin Genet
; 97(4): 586-594, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32020600
5.
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Nat Commun
; 15(1): 365, 2024 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38191484
6.
Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy.
Mol Genet Genomic Med
; 9(6): e1677, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811753
7.
Generation and characterization of a mitotane-resistant adrenocortical cell line.
Endocr Connect
; 9(2): 122-134, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31910152
8.
Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population.
Sci Rep
; 10(1): 1413, 2020 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31996704
9.
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.
Neuron
; 106(4): 589-606.e6, 2020 05 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32169171
10.
CLCN2 chloride channel mutations in familial hyperaldosteronism type II.
Nat Genet
; 50(3): 349-354, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29403011