Detalhe da pesquisa
1.
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Lancet Oncol
; 24(1): 91-106, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36436516
2.
Red blood cell alloimmunisation in sickle cell disease patients in the Democratic Republic of the Congo.
Transfus Med
; 33(2): 137-146, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36377544
3.
Diagnostic Performance of Immunohistochemistry Compared to Molecular Techniques for Microsatellite Instability and p53 Mutation Detection in Endometrial Cancer.
Int J Mol Sci
; 24(5)2023 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36902292
4.
Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours.
Int J Mol Sci
; 24(4)2023 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36835410
5.
A Phylodynamic Workflow to Rapidly Gain Insights into the Dispersal History and Dynamics of SARS-CoV-2 Lineages.
Mol Biol Evol
; 38(4): 1608-1613, 2021 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33316043
6.
Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy.
Int J Mol Sci
; 23(4)2022 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35216372
7.
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
8.
Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).
Am J Med Genet A
; 185(3): 990-994, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33372375
9.
A Recurrent Mutation at Position 26340 of SARS-CoV-2 Is Associated with Failure of the E Gene Quantitative Reverse Transcription-PCR Utilized in a Commercial Dual-Target Diagnostic Assay.
J Clin Microbiol
; 58(10)2020 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32690547
10.
GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome.
Clin Genet
; 98(2): 126-137, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32378186
11.
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Blood
; 132(5): 469-483, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29891534
12.
Pancreatic Neuroendocrine Neoplasm Associated with a Familial MAX Deletion.
Horm Metab Res
; 52(11): 784-787, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32521546
13.
Tryptophan catabolism increases in breast cancer patients compared to healthy controls without affecting the cancer outcome or response to chemotherapy.
J Transl Med
; 17(1): 239, 2019 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31337401
14.
Exome copy number variation detection: Use of a pool of unrelated healthy tissue as reference sample.
Genet Epidemiol
; 41(1): 35-40, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862228
15.
A dualistic model of primary anal canal adenocarcinoma with distinct cellular origins, etiologies, inflammatory microenvironments and mutational signatures: implications for personalised medicine.
Br J Cancer
; 118(10): 1302-1312, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29700411
16.
Variations of circulating cardiac biomarkers during and after anthracycline-containing chemotherapy in breast cancer patients.
BMC Cancer
; 18(1): 102, 2018 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29378531
17.
Natural Antisense Transcripts: Molecular Mechanisms and Implications in Breast Cancers.
Int J Mol Sci
; 19(1)2018 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29301303
18.
Genomic studies of multiple myeloma reveal an association between X chromosome alterations and genomic profile complexity.
Genes Chromosomes Cancer
; 56(1): 18-27, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27454822
19.
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
N Engl J Med
; 371(25): 2363-74, 2014 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-25470569
20.
Influence of COMT Genotype on Antero-posterior Cortical Functional Connectivity Underlying Interference Resolution.
Cereb Cortex
; 26(2): 498-509, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25205659