Detalhe da pesquisa
1.
Trio exome sequencing is highly relevant in prenatal diagnostics.
Prenat Diagn
; 42(7): 845-851, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34958143
2.
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
Hum Genet
; 136(3): 307-320, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28120103
3.
Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains.
Clin Epigenetics
; 13(1): 30, 2021 02 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33541417
4.
Chromosome deletions in 13q33-34: report of four patients and review of the literature.
Am J Med Genet A
; 146A(3): 337-42, 2008 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-18203171
5.
Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences.
Eur J Hum Genet
; 13(3): 283-91, 2005 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-15657610
6.
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.
Am J Med Genet A
; 135(3): 251-62, 2005 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-15884042