Detalhe da pesquisa
1.
An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality.
Genes Dev
; 32(5-6): 373-388, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29555651
2.
Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.
Biochim Biophys Acta Mol Basis Dis
; 1863(3): 721-730, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28024938
3.
Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31.
Am J Med Genet A
; 170A(2): 504-509, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26554871
4.
Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia.
Am J Med Genet A
; 170A(2): 510-514, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26601923
5.
Trisomy 4 mosaicism: Delineation of the phenotype.
Am J Med Genet A
; 170A(4): 1040-5, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26789019
6.
The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome?
Am J Med Genet A
; 155A(5): 1066-72, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21465664
7.
Widespread domain-like perturbations of DNA methylation in whole blood of Down syndrome neonates.
PLoS One
; 13(3): e0194938, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29601581
8.
Genetic Analyses in Small-for-Gestational-Age Newborns.
J Clin Endocrinol Metab
; 103(3): 917-925, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29342293
9.
Communication with patients during the prenatal testing procedure: an explorative qualitative study.
Patient Educ Couns
; 63(1-2): 161-8, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16406463