Detalhe da pesquisa
1.
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
2.
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
3.
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity.
Am J Hum Genet;
90(6): 986-1001, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22608502
4.
Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.
J Inherit Metab Dis;
38(6): 1147-53, 2015 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25971455
5.
Modulating effect of COMT Val(158)Met polymorphism on interference resolution during a working memory task.
Brain Cogn;
95: 7-18, 2015 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25682348
6.
Concurrent synaptic and systems memory consolidation during sleep.
J Neurosci;
33(24): 10182-90, 2013 Jun 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23761912
7.
Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.
BMC Med Genet;
15: 79, 2014 Jul 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25016475
8.
Genetic diagnosis of Duchenne and Becker muscular dystrophy using multiplex ligation-dependent probe amplification in Rwandan patients.
J Trop Pediatr;
60(2): 112-7, 2014 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24213305
9.
Association between executive functions and COMT Val108/158Met polymorphism among healthy younger and older adults: A preliminary study.
PLoS One;
19(5): e0303343, 2024.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38739620
10.
Dutch founder SDHB exon 3 deletion in patients with pheochromocytoma-paraganglioma in South Africa.
Endocr Connect;
11(1)2022 01 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34939938
11.
Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy.
Sci Rep;
11(1): 3011, 2021 02 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33542429
12.
Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers.
JMIR Med Inform;
9(7): e27980, 2021 Jul 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34255700
13.
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.
Sci Rep;
11(1): 19922, 2021 10 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34620959
14.
Newborn screening for SMA in Southern Belgium.
Neuromuscul Disord;
29(5): 343-349, 2019 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31030938
15.
The TNF/ADAM 17 system: implication of an ADAM 17 haplotype in the clinical response to infliximab in Crohn's disease.
Pharmacogenet Genomics;
16(10): 727-34, 2006 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17001292
16.
Reader response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA.
Neurology;
95(3): 144-145, 2020 07 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32690780
17.
Modulating effect of COMT genotype on the brain regions underlying proactive control process during inhibition.
Cortex;
50: 148-61, 2014 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23859480
18.
Altered white matter architecture in BDNF met carriers.
PLoS One;
8(7): e69290, 2013.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23935975
19.
Evidence of association between interferon regulatory factor 5 gene polymorphisms and asthma.
Gene;
504(2): 220-5, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22613848
20.
IL28B polymorphism and the control of hepatitis C virus infection: ready for clinical use?
Acta Gastroenterol Belg;
74(2): 317-22, 2011 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21861317