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1.
Delving into the Role of lncRNAs in Papillary Thyroid Cancer: Upregulation of LINC00887 Promotes Cell Proliferation, Growth and Invasion.
Int J Mol Sci
; 25(3)2024 Jan 27.
Article
in English
| MEDLINE | ID: mdl-38338866
2.
Maternal and obstetric outcomes after Ex-Utero Intrapartum Treatment (EXIT): a single center experience.
BMC Pregnancy Childbirth
; 23(1): 831, 2023 Dec 02.
Article
in English
| MEDLINE | ID: mdl-38042795
3.
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
4.
Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing.
Int J Mol Sci
; 24(9)2023 Apr 25.
Article
in English
| MEDLINE | ID: mdl-37175550
5.
Mode of delivery, perinatal outcome and neurodevelopment in uncomplicated monochorionic diamniotic twins: a single-center retrospective cohort study.
BMC Pregnancy Childbirth
; 22(1): 89, 2022 Feb 01.
Article
in English
| MEDLINE | ID: mdl-35105319
6.
Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants.
J Transl Med
; 18(1): 73, 2020 02 12.
Article
in English
| MEDLINE | ID: mdl-32050993
7.
What is new about the genetic background of Hirschsprung disease?
Clin Genet
; 97(1): 114-124, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31355911
8.
Ex-Utero Intrapartum Treatment (EXIT): indications and outcome in fetal cervical and oropharyngeal masses.
BMC Pregnancy Childbirth
; 20(1): 598, 2020 Oct 07.
Article
in English
| MEDLINE | ID: mdl-33028259
9.
Identification of New Potential LncRNA Biomarkers in Hirschsprung Disease.
Int J Mol Sci
; 21(15)2020 Aug 02.
Article
in English
| MEDLINE | ID: mdl-32748823
10.
ChIP-Seq-Based Approach in Mouse Enteric Precursor Cells Reveals New Potential Genes with a Role in Enteric Nervous System Development and Hirschsprung Disease.
Int J Mol Sci
; 21(23)2020 Nov 28.
Article
in English
| MEDLINE | ID: mdl-33260622
11.
A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.
Int J Mol Sci
; 21(24)2020 Dec 08.
Article
in English
| MEDLINE | ID: mdl-33302505
12.
Exploring the Potential of Artificial Intelligence Language Models in Obstetrics with a Focus on Fetal Medicine: An Evaluation of the Perplexity AI Model.
Fetal Diagn Ther
; 51(2): 125-132, 2024.
Article
in English
| MEDLINE | ID: mdl-38035564
13.
Epigenetic Mechanisms in Hirschsprung Disease.
Int J Mol Sci
; 20(13)2019 Jun 26.
Article
in English
| MEDLINE | ID: mdl-31247956
14.
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.
Hum Mol Genet
; 25(23): 5265-5275, 2016 12 01.
Article
in English
| MEDLINE | ID: mdl-27702942
15.
Resolution of maternal Mirror syndrome after succesful fetal intrauterine therapy: a case series.
BMC Pregnancy Childbirth
; 18(1): 85, 2018 04 06.
Article
in English
| MEDLINE | ID: mdl-29625560
16.
267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.
Mol Biol Evol
; 33(5): 1205-18, 2016 05.
Article
in English
| MEDLINE | ID: mdl-26764160
17.
Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations.
Am J Med Genet A
; 170A(5): 1268-73, 2016 May.
Article
in English
| MEDLINE | ID: mdl-26762557
18.
Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.
BMC Med Genet
; 16: 89, 2015 Oct 05.
Article
in English
| MEDLINE | ID: mdl-26437850
19.
The role of the interactome in the maintenance of deleterious variability in human populations.
Mol Syst Biol
; 10: 752, 2014 Sep 26.
Article
in English
| MEDLINE | ID: mdl-25261458
20.
Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.
Am J Med Genet A
; 167(7): 1597-600, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25823529