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1.
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.
Hum Genomics
; 17(1): 45, 2023 06 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-37269011
2.
New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.
Clin Genet
; 103(2): 236-241, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36250766
3.
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia.
Int J Mol Sci
; 24(2)2023 Jan 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-36675087
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33346930
5.
Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts.
Int J Mol Sci
; 22(23)2021 Nov 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-34884523
6.
Mitotic Catastrophe Induced in HeLa Tumor Cells by Photodynamic Therapy with Methyl-aminolevulinate.
Int J Mol Sci
; 20(5)2019 Mar 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30862116
7.
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
Eur J Hum Genet
; 31(10): 1175-1180, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-36997679
8.
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.
NPJ Genom Med
; 7(1): 7, 2022 Jan 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-35087072
9.
Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
Eur J Hum Genet
; 31(10): 1196-1198, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37106145
10.
Cellular intrinsic factors involved in the resistance of squamous cell carcinoma to photodynamic therapy.
J Invest Dermatol
; 134(9): 2428-2437, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24717244
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