Detalhe da pesquisa
1.
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
Clin Genet
; 97(2): 264-275, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31573083
2.
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
Brain
; 138(Pt 10): 2847-58, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26264513
3.
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Neuromuscul Disord
; 34: 1-8, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38087756
4.
Urinary levels of regenerating protein Iα do not differentiate celiac patients and healthy subjects.
Biomarkers
; 18(2): 178-80, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23312007
5.
Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain.
Mol Genet Metab
; 106(2): 196-201, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22521955
6.
Usefulness of tissue Doppler on early detection of cardiac disease in Fabry patients and potential role of enzyme replacement therapy (ERT) for avoiding progression of disease.
Eur J Echocardiogr
; 12(9): 671-7, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21810826
7.
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.
Kidney Int
; 76(12): 1268-76, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19812541
8.
TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.
Nephrol Dial Transplant
; 24(10): 3089-96, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19458060
9.
Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.
Medicine (Baltimore)
; 98(39): e17303, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31574857
10.
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.
PLoS One
; 12(3): e0173581, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28288174
11.
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome.
Clin Dysmorphol
; 15(3): 181-184, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16760741
12.
Clinical usefulness of tissue Doppler imaging in predicting preclinical Fabry cardiomyopathy.
Int J Cardiol
; 132(1): 38-44, 2009 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-18691784