Detalhe da pesquisa
1.
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Am J Hum Genet
; 110(8): 1414-1435, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541189
2.
Dicarboxylic acylcarnitine biomarkers in peroxisome biogenesis disorders.
Mol Genet Metab
; 140(3): 107680, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37567036
3.
Palynziq clinic: One year and 43 patients later.
Mol Genet Metab
; 133(3): 250-256, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34074593
4.
Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health.
J Community Genet
; 14(6): 627-638, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37798460
5.
Genetic Testing and Counseling in Metabolic Liver Disease: An Interactive Lecture for Medical Students.
MedEdPORTAL
; 16: 10996, 2020 10 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33117886
6.
Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency.
JIMD Rep
; 45: 83-87, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30406504