Detalhe da pesquisa
1.
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Int J Mol Sci
; 23(11)2022 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35682590
2.
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
Neurogenetics
; 20(3): 145-154, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31209758
3.
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
Int J Mol Sci
; 19(4)2018 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29642415
4.
Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.
Front Genet
; 15: 1358334, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38544803
5.
Rough Implants in Vertically Augmented Bone: A Retrospective Study with 4 to 15 Years of Follow-up
Int J Periodontics Restorative Dent
; 43(4): 471-477, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36520131
6.
Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.
Genes (Basel)
; 13(2)2022 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35205380
7.
A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.
Eur J Hum Genet
; 30(11): 1233-1238, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35821519
8.
A Clinical and Radiographic Retrospective Study on 223 Anodized Surface Implants with a 5- to 17-Year Follow-up.
Int J Periodontics Restorative Dent
; 39(6): 799-807, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31613940
9.
Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar Phenotypes.
Front Genet
; 10: 955, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31749829
10.
Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features.
Front Genet
; 9: 600, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30555519
11.
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome - case report and review of the literature.
Mol Cytogenet
; 11: 53, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30250511
12.
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.
Stem Cell Res
; 30: 130-140, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29883886