Detalhe da pesquisa
1.
Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes.
Prenat Diagn
; 44(5): 586-594, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38558419
2.
Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features.
Am J Med Genet A
; 191(6): 1639-1645, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36941760
3.
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Mol Genet Metab
; 122(4): 189-197, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29122469
4.
Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family.
J Heart Valve Dis
; 26(5): 569-580, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29762926
5.
Current concepts in breast cancer genomics: An evidence based review by the CGC breast cancer working group.
Cancer Genet
; 244: 11-20, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32087595
6.
Integrated Analysis of HER2 Copy Number by Cytogenomic Microarray in Breast Cancers With Nonclassical In Situ Hybridization Results.
Am J Clin Pathol
; 149(2): 135-147, 2018 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29385416
7.
Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case.
Cold Spring Harb Mol Case Stud
; 4(5)2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30275001
8.
Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.
Neurol Genet
; 4(1): e212, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29417091
9.
Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.
Circ Cardiovasc Genet
; 10(3)2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28611029
10.
Retinoic acid signaling identifies a distinct precursor population in the developing and adult forebrain.
J Neurosci
; 25(33): 7636-47, 2005 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-16107650
11.
RanBP1, a velocardiofacial/DiGeorge syndrome candidate gene, is expressed at sites of mesenchymal/epithelial induction.
Mech Dev
; 111(1-2): 177-80, 2002 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-11804793
12.
Retinoic acid signaling at sites of plasticity in the mature central nervous system.
J Comp Neurol
; 452(3): 228-41, 2002 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-12353219
13.
22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome.
Int J Dev Neurosci
; 20(3-5): 407-19, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12175881