Detalhe da pesquisa
1.
Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas.
Hum Mol Genet
; 33(11): 1001-1014, 2024 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38483348
2.
Extending protein interaction networks using proteoforms and small molecules.
Bioinformatics
; 39(10)2023 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37756698
3.
Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
Immunity
; 42(6): 1185-96, 2015 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26084028
4.
Smoking during pregnancy and its effect on placental weight: a Mendelian randomization study.
BMC Pregnancy Childbirth
; 24(1): 238, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38575863
5.
Acetaminophen Use During Pregnancy and Children's Risk of Autism, ADHD, and Intellectual Disability.
JAMA
; 331(14): 1205-1214, 2024 04 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38592388
6.
Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.
Diabetologia
; 66(12): 2226-2237, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37798422
7.
Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios.
Hum Mol Genet
; 29(23): 3845-3858, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33291140
8.
Apgar Score and Risk of Neonatal Death among Preterm Infants.
N Engl J Med
; 383(1): 49-57, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32609981
9.
A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies.
J Intern Med
; 294(1): 96-109, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37151110
10.
Severity of preterm birth and the risk of pulmonary hypertension in childhood: A population-based cohort study in Sweden.
Paediatr Perinat Epidemiol
; 37(7): 630-640, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37414733
11.
Disability digital divide: survey of accessibility of eHealth services as perceived by people with and without impairment.
BMC Public Health
; 23(1): 181, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36707791
12.
Low Apgar score and need for resuscitation increased the probability of receiving therapeutic hypothermia more strongly than acidosis at birth.
Acta Paediatr
; 112(4): 667-674, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36562300
13.
Development and Evaluation of eHealth Services Regarding Accessibility: Scoping Literature Review.
J Med Internet Res
; 25: e45118, 2023 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37590050
14.
The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity.
J Biol Chem
; 296: 100661, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33862081
15.
SeeCiTe: a method to assess CNV calls from SNP arrays using trio data.
Bioinformatics
; 37(13): 1876-1883, 2021 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33459766
16.
Association of sweetened carbonated beverage consumption during pregnancy and ADHD symptoms in the offspring: a study from the Norwegian Mother, Father and Child Cohort Study (MoBa).
Eur J Nutr
; 61(4): 2153-2166, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35066701
17.
Maternal Obesity and Risk of Early-onset Neonatal Bacterial Sepsis: Nationwide Cohort and Sibling-controlled Studies.
Clin Infect Dis
; 73(9): e2656-e2664, 2021 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32770206
18.
Comprehensive characterization of copy number variation (CNV) called from array, long- and short-read data.
BMC Genomics
; 22(1): 826, 2021 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34789167
19.
Neonatal Morbidities in Infants Born Late Preterm at 35-36 Weeks of Gestation: A Swedish Nationwide Population-based Study.
J Pediatr
; 233: 43-50.e5, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33662344
20.
Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing.
Mol Psychiatry
; 25(9): 2047-2057, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30116028