Detalhe da pesquisa
1.
The clinical significance of small copy number variants in neurodevelopmental disorders.
J Med Genet
; 51(10): 677-88, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25106414
2.
High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power.
Prenat Diagn
; 34(6): 525-33, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24919595
3.
Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing.
Eur J Obstet Gynecol Reprod Biol
; 252: 19-29, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32619881
4.
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Eur J Hum Genet
; 27(3): 408-421, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30552426
5.
Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.
Mol Syndromol
; 8(5): 266-271, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28878611
6.
Noninvasive prenatal testing: more caution in counseling is needed in high risk pregnancies with ultrasound abnormalities.
Eur J Obstet Gynecol Reprod Biol
; 200: 72-5, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26989803
7.
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.
Eur J Hum Genet
; 21(10): 1100-4, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23403903
8.
Pre- and postnatal findings in trisomy 17 mosaicism.
Am J Med Genet A
; 140(15): 1628-36, 2006 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16802327