Detalhe da pesquisa
1.
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Hum Genet
; 143(5): 649-666, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538918
2.
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.
Genet Med
; 24(4): 894-904, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35042660
3.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 23(3): 498-507, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144682
4.
Examining career shadowing in genetic counseling: Perspectives of shadowees, program directors, and genetic counselors.
J Genet Couns
; 30(5): 1428-1439, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33788324
5.
Correction: Arterial tortuosity syndrome: 40 new families and literature review.
Genet Med
; 21(8): 1894-1895, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30201961
6.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 25(2): 100359, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745126
7.
Arterial tortuosity syndrome: 40 new families and literature review.
Genet Med
; 20(10): 1236-1245, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29323665
8.
Histone H4 Methyltransferase Suv420h2 Maintains Fidelity of Osteoblast Differentiation.
J Cell Biochem
; 118(5): 1262-1272, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862226
9.
Epigenetic Control of Skeletal Development by the Histone Methyltransferase Ezh2.
J Biol Chem
; 290(46): 27604-17, 2015 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-26424790
10.
The effects of polymorphisms on human gene targeting.
Nucleic Acids Res
; 42(5): 3119-24, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24371280
11.
High-resolution molecular validation of self-renewal and spontaneous differentiation in clinical-grade adipose-tissue derived human mesenchymal stem cells.
J Cell Biochem
; 115(10): 1816-28, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24905804
12.
Thoracic Aortic Aneurysmal Disease: Comprehensive Recommendations for the Primary Care Physician.
Mayo Clin Proc
; 99(1): 111-123, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38176819
13.
Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.
Adv Ther
; 41(1): 198-214, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37882884
14.
Normal collagen and bone production by gene-targeted human osteogenesis imperfecta iPSCs.
Mol Ther
; 20(1): 204-13, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22031238
15.
Impact of Genetic Disorders in the Surgical Management of Congenital Heart Disease.
World J Pediatr Congenit Heart Surg
; 14(2): 201-210, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36866650
16.
Vitamin C epigenetically controls osteogenesis and bone mineralization.
Nat Commun
; 13(1): 5883, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36202795
17.
Nonintegrating foamy virus vectors.
J Virol
; 84(18): 9341-9, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20592072
18.
Generation of Induced Pluripotent Stem Cells.
Methods Mol Biol
; 2221: 71-87, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-32979199
19.
Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 Variant
J Clin Res Pediatr Endocrinol
; 13(2): 218-224, 2021 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32519829
20.
Early and Late Outcomes of Cardiovascular Surgery in Patients With Ehlers-Danlos Syndrome.
World J Pediatr Congenit Heart Surg
; 12(6): 773-777, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34846964