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1.
Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer.
J Med Genet
; 59(1): 75-78, 2022 01.
Article
in English
| MEDLINE | ID: mdl-33219106
2.
Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.
Hum Mutat
; 41(12): 2128-2142, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32906215
3.
Seat Belt Syndrome and the Submarine Effect: A Case Report.
Chirurgia (Bucur)
; 112(5): 624-626, 2017.
Article
in English
| MEDLINE | ID: mdl-29088563
4.
ICO amplicon NGS data analysis: a Web tool for variant detection in common high-risk hereditary cancer genes analyzed by amplicon GS Junior next-generation sequencing.
Hum Mutat
; 35(3): 271-7, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24227591
5.
Intraparietal suture: a normality variable rarely described.
Surg Radiol Anat
; 38(3): 387-8, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26578504
6.
BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.
Genes (Basel)
; 12(2)2021 01 23.
Article
in English
| MEDLINE | ID: mdl-33498765
7.
Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes.
Breast Cancer Res Treat
; 122(3): 733-43, 2010 Aug.
Article
in English
| MEDLINE | ID: mdl-19894111
8.
[CPAP vs oxygen therapy in infants being transported due to acute respiratory failure]. / CPAP vs oxigenoterapia convencional en lactantes trasladados por insuficiencia respiratoria.
An Pediatr (Engl Ed)
; 93(3): 152-160, 2020 Sep.
Article
in Spanish
| MEDLINE | ID: mdl-32044198
9.
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.
Cancers (Basel)
; 12(4)2020 Mar 30.
Article
in English
| MEDLINE | ID: mdl-32235514
10.
Physiological parameters for Prognosis in Abdominal Sepsis (PIPAS) Study: a WSES observational study.
World J Emerg Surg
; 14: 34, 2019.
Article
in English
| MEDLINE | ID: mdl-31341511
11.
Mosaicism in PTEN-new case and comment on the literature.
Eur J Hum Genet
; 30(6): 641-644, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35102303
12.
Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria.
Fam Cancer
; 16(4): 501-507, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28365877
13.
CPAP vs oxigenoterapia convencional en lactantes trasladados por insuficiencia respiratoria / CPAP vs oxygen therapy in infants being transported due to acute respiratory failure
An. pediatr. (2003. Ed. impr.)
; 93(3): 152-160, sept. 2020. tab, graf
Article
in Spanish
| IBECS (Spain) | ID: ibc-201549
14.
Dispositivo de presión positiva continua en la vía aérea de Boussignac durante el transporte interhospitalario en lactantes menores de tres meses / Boussignac continuous positive airway pressure device during inter-hospital transportation in infants aged less than three months
An. sist. sanit. Navar
; 42(1): 49-54, ene.-abr. 2019. tab
Article
in Spanish
| IBECS (Spain) | ID: ibc-183046
15.
Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.
Eur J Hum Genet
; 21(8): 864-70, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23249957
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