Detalles de la búsqueda
1.
Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.
Hum Mol Genet;
25(17): 3754-3767, 2016 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27436579
2.
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.
Am J Hum Genet;
92(3): 439-47, 2013 Mar 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-23453669
3.
Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.
Am J Med Genet A;
161A(3): 527-33, 2013 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-23401415
4.
Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.
Clin Transl Sci;
14(1): 204-213, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32931151
5.
Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.
Oncotarget;
8(60): 102033-102045, 2017 Nov 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-29254223
6.
Primary Hepatic Small Cell Carcinoma: Two Case Reports, Molecular Characterization and Pooled Analysis of Known Clinical Data.
Anticancer Res;
36(1): 271-7, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26722053
7.
Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.
PLoS One;
10(7): e0133742, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26214305
8.
Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic population.
Mol Genet Genomic Med;
3(6): 558-69, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-26740948
9.
A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.
PLoS One;
10(10): e0133082, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26426422
10.
Agnathia-otocephaly complex: a case report and examination of the OTX2 and PRRX1 genes.
Gene;
494(1): 124-9, 2012 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-22198066
11.
Correction: A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.
PLoS One;
10(10): e0141259, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26473954
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