Detalhe da pesquisa
1.
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Genet Med
; 26(6): 101104, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38411040
2.
Deregulated Regulators: Disease-Causing cis Variants in Transcription Factor Genes.
Trends Genet
; 36(7): 523-539, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451166
3.
RevUP: an online scoring system for regulatory variants implicated in rare diseases.
Bioinformatics
; 38(9): 2664-2666, 2022 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35289834
4.
Exploring professionals' views regarding prenatal counselling in congenital diaphragmatic hernia.
J Perinat Med
; 51(9): 1229-1238, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37561765
5.
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
Am J Hum Genet
; 105(3): 534-548, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422819
6.
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
Brain
; 144(2): 411-419, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33313762
7.
JASPAR 2020: update of the open-access database of transcription factor binding profiles.
Nucleic Acids Res
; 48(D1): D87-D92, 2020 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31701148
8.
The role of clinical response to treatment in determining pathogenicity of genomic variants.
Genet Med
; 23(3): 581-585, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087887
9.
Association between fetal sex, birthweight percentile and adverse pregnancy outcome.
Acta Obstet Gynecol Scand
; 99(1): 48-58, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31424085
10.
JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework.
Nucleic Acids Res
; 46(D1): D260-D266, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29140473
11.
Understanding the pathobiology in patent ductus arteriosus in prematurity-beyond prostaglandins and oxygen.
Pediatr Res
; 86(1): 28-38, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30965358
12.
Genome-scale detection of positive selection in nine primates predicts human-virus evolutionary conflicts.
Nucleic Acids Res
; 45(18): 10634-10648, 2017 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28977405
13.
The role of Neonatologist Performed Echocardiography in the assessment and management of neonatal shock.
Pediatr Res
; 84(Suppl 1): 57-67, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30072807
14.
Response to Biesecker et al.
Genet Med
; 23(4): 793-794, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33420347
15.
Integrative Genomics-Based Discovery of Novel Regulators of the Innate Antiviral Response.
PLoS Comput Biol
; 11(10): e1004553, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26485378
16.
Feasibility of monitoring stress using skin conduction measurements during intubation of newborns.
Eur J Pediatr
; 175(2): 237-43, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26328787
17.
Morbidity and mortality related to surgery in patients with bronchopulmonary dysplasia: A retrospective cohort study in a Dutch tertiary institution.
Eur J Anaesthesiol
; 38(12): 1295-1297, 2021 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34735398
18.
Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system.
BMC Genomics
; 16: 691, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26369791
19.
The RIG-I-like helicase receptor MDA5 (IFIH1) is involved in the host defense against Candida infections.
Eur J Clin Microbiol Infect Dis
; 34(5): 963-974, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25579795
20.
JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework.
Nucleic Acids Res
; 46(D1): D1284, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29161433