Detalhe da pesquisa
1.
The impact of preimplantation genetic testing for aneuploidies (PGT-A) on clinical outcomes in high risk patients.
J Assist Reprod Genet
; 39(6): 1341-1349, 2022 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-35338417
2.
Reprogramming of bone marrow derived mesenchymal stromal cells to human induced pluripotent stem cells from pediatric patients with hematological diseases using a commercial mRNA kit.
Blood Cells Mol Dis
; 76: 32-39, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30709626
3.
A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array.
Neuropediatrics
; 50(1): 61-63, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30541163
4.
Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses.
Birth Defects Res A Clin Mol Teratol
; 106(7): 536-41, 2016 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-26969897
5.
Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?
Genes (Basel)
; 14(8)2023 07 25.
Artigo
Inglês
| MEDLINE | ID: mdl-37628571
6.
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.
Genes (Basel)
; 14(7)2023 07 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37510394
7.
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity.
Expert Rev Mol Diagn
; 23(11): 999-1010, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37754746
8.
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Expert Rev Mol Diagn
; 23(1): 85-103, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36714946
9.
239-kb Microdeletion Spanning KMT2E in a Child with Developmental Delay: Further Delineation of the Phenotype.
Mol Syndromol
; 12(5): 321-326, 2021 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-34602960
10.
Coffin-Siris Syndrome 4-Related Spectrum in a Young Woman Caused by a Heterozygous SMARCA4 Deletion Detected by High-Resolution aCGH.
Mol Syndromol
; 11(3): 141-145, 2020 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-32903985
11.
Low-level X Chromosome Mosaicism: A Common Finding in Women Undergoing IVF.
In Vivo
; 34(3): 1433-1437, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32354942
12.
High resolution Chromosomal Microarray Analysis (CMA) enhances the genetic profile of pediatric B-cell Acute Lymphoblastic Leukemia patients.
Leuk Res
; 83: 106177, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31261022