Detalhe da pesquisa
1.
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.
Hum Mol Genet
; 27(4): 589-600, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29267967
2.
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Brain
; 140(11): 2879-2894, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29053855
3.
[Fragile X syndrome and FMR1-dependent diseases - diagnostic scheme based on own experience .]
Dev Period Med
; 22(1): 22-32, 2018.
Artigo
em Polonês
| MEDLINE | ID: mdl-29641418
4.
[Fragile X syndrome and FMR1-dependent diseases - clinical presentation, epidemiology and molecular background].
Dev Period Med
; 22(1): 14-21, 2018.
Artigo
em Polonês
| MEDLINE | ID: mdl-29641417
5.
[Non-invasive genetic prenatal diagnosis. Analysis of nucleic acids of foetal origin present in maternal vascular system].
Dev Period Med
; 18(2): 247-55, 2014.
Artigo
em Polonês
| MEDLINE | ID: mdl-25182266
6.
A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy
J Clin Res Pediatr Endocrinol
; 11(3): 319-326, 2019 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30563316
7.
Rosiglitazone induces decreases in bone mass and strength that are reminiscent of aged bone.
Endocrinology
; 148(6): 2669-80, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17332064
8.
Netoglitazone is a PPAR-gamma ligand with selective effects on bone and fat.
Bone
; 38(1): 74-84, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16137931
9.
Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.
Genes (Basel)
; 7(9)2016 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27598204
10.
Soluble TNF-α receptor I encoded on plasmid vector and its application in experimental gene therapy of radiation-induced lung fibrosis.
Arch Immunol Ther Exp (Warsz)
; 59(4): 315-26, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21633916