Search details
1.
A crowdsourcing database for the copy-number variation of the Spanish population.
Hum Genomics
; 17(1): 20, 2023 03 09.
Article
in English
| MEDLINE | ID: mdl-36894999
2.
CSVS, a crowdsourcing database of the Spanish population genetic variability.
Nucleic Acids Res
; 49(D1): D1130-D1137, 2021 01 08.
Article
in English
| MEDLINE | ID: mdl-32990755
3.
De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.
Am J Med Genet A
; 185(3): 877-883, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33346930
4.
SMN1 copy-number and sequence variant analysis from next-generation sequencing data.
Hum Mutat
; 41(12): 2073-2077, 2020 12.
Article
in English
| MEDLINE | ID: mdl-33058415
5.
Emerging BCR/ABL1 Mutations Under Treatment with Tyrosine Kinase Inhibitors in Paediatric Acute Lymphoblastic Leukaemia.
Acta Haematol
; 134(2): 71-5, 2015.
Article
in English
| MEDLINE | ID: mdl-25895602
6.
Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene.
Cells
; 13(6)2024 Mar 16.
Article
in English
| MEDLINE | ID: mdl-38534367
7.
Characterization of the Common Genetic Variation in the Spanish Population of Navarre.
Genes (Basel)
; 15(5)2024 May 04.
Article
in English
| MEDLINE | ID: mdl-38790214
8.
Protein and functional isoform levels and genetic variants of the BAFF and APRIL pathway components in systemic lupus erythematosus.
Sci Rep
; 12(1): 11219, 2022 07 02.
Article
in English
| MEDLINE | ID: mdl-35780200
9.
Accesibilidad en la alimentación en personas mayores / Accessibility in food for older people / Acessibilidade alimentar em idosos
Rev. urug. enferm
; 17(2): 1-12, jul. 2022.
Article
in Spanish
| LILACS, BDENF - nursing (Brazil), BNUY, BNUY-Enf | ID: biblio-1391808
10.
Tuberculose peritoneal na infância: relato de um caso / Tuberculous peritonitis: case report
An. Fac. Med. Univ. Fed. Pernamb
; 41(2): 135-8, jul.-dez. 1996. graf
Article
in Portuguese
| LILACS | ID: lil-211658
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