Detalhe da pesquisa
1.
Optimizing freeform lenses for extended sources with algorithmic differentiable ray tracing and truncated hierarchical B-splines.
Opt Express
; 32(6): 9730-9746, 2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38571200
2.
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Genet Med
; 23(6): 1125-1136, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33742171
3.
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
Hum Mutat
; 40(12): 2230-2238, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31433103
4.
A comprehensive strategy for exome-based preconception carrier screening.
Genet Med
; 19(5): 583-592, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28492530
5.
Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.
J Pediatr
; 182: 371-374.e2, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28081892
6.
Archaeal MBF1 binds to 30S and 70S ribosomes via its helix-turn-helix domain.
Biochem J
; 462(2): 373-84, 2014 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24825021
7.
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.
Brain
; 136(Pt 3): 882-90, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23423671
8.
Clustering of Cardiac Transcriptome Profiles Reveals Unique: Subgroups of Dilated Cardiomyopathy Patients.
JACC Basic Transl Sci
; 8(4): 406-418, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37138803
9.
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Front Cell Dev Biol
; 11: 1112270, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36819107
10.
Correction: Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing.
PLoS One
; 16(3): e0248250, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33651841
11.
Fidelity in archaeal information processing.
Archaea
; 20102010 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-20871851
12.
Role of multiprotein bridging factor 1 in archaea: bridging the domains?
Biochem Soc Trans
; 37(Pt 1): 52-7, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19143601
13.
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
Eur J Hum Genet
; 26(4): 537-551, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29440775
14.
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Front Genet
; 9: 400, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30369941
15.
Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.
Eur J Hum Genet
; 24(4): 619-22, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26197978
16.
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.
Front Neurol
; 7: 203, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27899912
17.
Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients.
Oncotarget
; 6(38): 41108-22, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26517685
18.
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
Eur J Hum Genet
; 23(9): 1142-50, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25626705
19.
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
Eur J Hum Genet
; 23(9): 1270, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26269248
20.
Relative quantification of proteins across the species boundary through the use of shared peptides.
J Proteome Res
; 6(1): 97-104, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17203953