Detalhe da pesquisa
1.
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
Genet Med
; 23(6): 1137-1142, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33564150
2.
Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory.
Prenat Diagn
; 36(8): 699-707, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27176606
3.
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.
Am J Hum Genet
; 90(1): 119-24, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22197486
4.
Spectrum of mutations in Gitelman syndrome.
J Am Soc Nephrol
; 22(4): 693-703, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21415153
5.
Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.
Obstet Gynecol
; 137(6): 1102-1108, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33957658
6.
NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?
Eur J Hum Genet
; 16(3): 305-11, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18183042
7.
Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl.
Clin Case Rep
; 4(3): 265-71, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27014449
8.
Simultaneous mining of linkage and linkage disequilibrium to fine map quantitative trait loci in outbred half-sib pedigrees: revisiting the location of a quantitative trait locus with major effect on milk production on bovine chromosome 14.
Genetics
; 161(1): 275-87, 2002 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12019241
9.
Molecular dissection of a quantitative trait locus: a phenylalanine-to-tyrosine substitution in the transmembrane domain of the bovine growth hormone receptor is associated with a major effect on milk yield and composition.
Genetics
; 163(1): 253-66, 2003 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-12586713
10.
Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges.
Eur J Med Genet
; 57(4): 151-6, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24534801
11.
Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene.
Eur J Hum Genet
; 21(9): 970-6, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23299923
12.
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
Nat Genet
; 44(5): 581-5, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22522421
13.
Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.
Eur J Med Genet
; 54(2): 177-80, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21167329
14.
Variants modulating the expression of a chromosome domain encompassing PLAG1 influence bovine stature.
Nat Genet
; 43(5): 405-13, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21516082
15.
Genetic and functional confirmation of the causality of the DGAT1 K232A quantitative trait nucleotide in affecting milk yield and composition.
Proc Natl Acad Sci U S A
; 101(8): 2398-403, 2004 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-14983021
16.
Positional candidate cloning of a QTL in dairy cattle: identification of a missense mutation in the bovine DGAT1 gene with major effect on milk yield and composition.
Genome Res
; 12(2): 222-31, 2002 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-11827942