Detalhe da pesquisa
1.
Germline heterozygous exons 8-11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?
Hered Cancer Clin Pract
; 21(1): 2, 2023 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36709314
2.
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Clin Genet
; 97(4): 610-620, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32043567
3.
Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer.
Oncology
; 91(3): 171-6, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27398995
4.
CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.
BMC Med Genet
; 13: 68, 2012 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22867051
5.
RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome.
Front Pediatr
; 10: 827802, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35186810
6.
Effect of AGG Interruptions on FMR1 Maternal Transmissions.
Front Mol Biosci
; 7: 135, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32766278
7.
Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study.
Genes (Basel)
; 7(10)2016 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27775646
8.
3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases.
Case Rep Genet
; 2015: 876348, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26075115
9.
Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.
Biomed Res Int
; 2014: 195793, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24987673
10.
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
em Inglês
| MEDLINE | ID: mdl-23810759
11.
[Relationship between in-hospital bacterial resistance and antimicrobial use over a 13-year period]. / Relación entre la resistencia bacteriana intrahospitalaria y el consumo de antimicrobianos durante un período de 13 años.
Enferm Infecc Microbiol Clin
; 27(8): 441-8, 2009 Oct.
Artigo
em Espanhol
| MEDLINE | ID: mdl-19520465
12.
What are the most appropriate antibiotics for the treatment of acute exacerbation of chronic obstructive pulmonary disease? A therapeutic outcomes model.
J Antimicrob Chemother
; 60(3): 605-12, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17595285
13.
Relación entre la resistencia bacteriana intrahospitalaria y el consumo de antimicrobianos durante un período de 13 años / Relationship between in-hospital bacterial resistance and antimicrobial use over a 13-year period
Enferm. infecc. microbiol. clín. (Ed. impr.)
; 27(8): 441-448, oct. 2009. ilus, tab
Artigo
em Espanhol
| IBECS (Espanha) | ID: ibc-76929