Detalhe da pesquisa
1.
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Clin Genet
; 97(4): 610-620, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32043567
2.
Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families.
J Med Genet
; 52(8): 503-13, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-26082521
3.
Tuning the replication fork progression by the initiation frequency.
Environ Microbiol
; 15(12): 3240-51, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-23607621
4.
Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain.
Mol Genet Metab
; 106(2): 196-201, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22521955
5.
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.
Orphanet J Rare Dis
; 15(1): 207, 2020 08 13.
Artigo
Inglês
| MEDLINE | ID: mdl-32791987
6.
MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).
J Mol Diagn
; 15(5): 723-9, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23810759
7.
Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.
Neuromuscul Disord
; 22(3): 231-43, 2012 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-22094069
8.
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
Eur J Hum Genet
; 19(4): 416-21, 2011 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21248736
9.
A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease.
J Hum Genet
; 52(3): 255-261, 2007.
Artigo
Inglês
| MEDLINE | ID: mdl-17262170