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1.
Comprehensive clinically oriented workflow for nucleotide level resolution and interpretation in prenatal diagnosis of de novo apparently balanced chromosomal translocations in their genomic landscape.
Hum Genet
; 139(4): 531-543, 2020 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-32030560
2.
Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis.
Exp Eye Res
; 168: 161-170, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29305299
3.
Deep analysis of wild Vitis flower transcriptome reveals unexplored genome regions associated with sex specification.
Plant Mol Biol
; 93(1-2): 151-170, 2017 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-27778293
4.
Shared and divergent pathways for flower abscission are triggered by gibberellic acid and carbon starvation in seedless Vitis vinifera L.
BMC Plant Biol
; 16: 38, 2016 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26832927
5.
Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in non-obstructive oligoasthenozoospermia and oligozoospermia and of a derivative chromosome 22 in recurrent miscarriage.
Gene
; 887: 147737, 2023 Dec 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-37625567
6.
Corrigendum: SVInterpreter: A Comprehensive Topologically Associated Domain Based Clinical Outcome Prediction Tool for Balanced and Unbalanced Structural Variants.
Front Genet
; 13: 868306, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35281799
7.
A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1).
Biomedicines
; 11(1)2022 Dec 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-36672520
8.
SVInterpreter: A Comprehensive Topologically Associated Domain-Based Clinical Outcome Prediction Tool for Balanced and Unbalanced Structural Variants.
Front Genet
; 12: 757170, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34925449
9.
Structure_threader: An improved method for automation and parallelization of programs structure, fastStructure and MavericK on multicore CPU systems.
Mol Ecol Resour
; 17(6): e268-e274, 2017 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-28776963
10.
Molecular candidates for early-stage flower-to-fruit transition in stenospermocarpic table grape (Vitis vinifera L.) inflorescences ascribed by differential transcriptome and metabolome profiles.
Plant Sci
; 244: 40-56, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26810452
11.
Comparative Validation of Conventional and RNA-Seq Data-Derived Reference Genes for qPCR Expression Studies of Colletotrichum kahawae.
PLoS One
; 11(3): e0150651, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26950697
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