Detalhe da pesquisa
1.
The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.
Muscle Nerve
; 59(1): 129-133, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30230566
2.
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
J Transl Med
; 14(1): 174, 2016 06 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27290639
3.
Analysis of vitamin D3 metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation.
J Steroid Biochem Mol Biol
; 208: 105824, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33516786
4.
Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland.
Int J Pediatr Otorhinolaryngol
; 121: 143-149, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30909120
5.
Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.
J Appl Genet
; 58(3): 349-353, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28470390
6.
Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2.
Mol Genet Metab Rep
; 4: 83-6, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26937415