Detalhe da pesquisa
1.
Cost of providing cell-free DNA screening for Down syndrome in Finland using different strategies.
J Perinat Med
; 50(3): 233-243, 2022 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34860478
2.
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Genet Med
; 23(6): 1050-1057, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495529
3.
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.
Am J Hum Genet
; 99(3): 683-694, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545674
4.
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
Brain
; 140(5): 1267-1279, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28335020
5.
Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases.
Neuropediatrics
; 49(4): 256-261, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29801191
6.
[Fetal diagnosis from the mother's blood--noninvasive screening of chromosomal aberrations]. / Sikiön diagnoosi äidin verestä--kajoamaton kromosomipoikkeavuuksien seulonta.
Duodecim
; 131(22): 2083-8, 2015.
Artigo
em Fi
| MEDLINE | ID: mdl-26749901
7.
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
Nat Genet
; 37(12): 1309-11, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16282978
8.
The Finnish disease heritage database (FinDis) update-a database for the genes mutated in the Finnish disease heritage brought to the next-generation sequencing era.
Hum Mutat
; 34(11): 1458-66, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23904198
9.
Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.
Epilepsia
; 54(9): 1577-85, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23808377
10.
Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.
Brain
; 140(8): e50, 2017 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28899016
11.
[Tuberous sclerosis]. / Tuberoosiskleroosi.
Duodecim
; 129(17): 1779-87, 2013.
Artigo
em Fi
| MEDLINE | ID: mdl-24159711
12.
PRRT2 mutations are the major cause of benign familial infantile seizures.
Hum Mutat
; 33(10): 1439-43, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22623405
13.
Multi-exon COL5A1 deletion in a child with classical Ehlers-Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism.
Clin Case Rep
; 10(10): e6455, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36245460
14.
Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype.
Eur J Paediatr Neurol
; 37: 1-7, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34999443
15.
Constitutional mosaicism for a BRCA2 mutation as a cause of early-onset breast cancer.
Fam Cancer
; 19(4): 307-310, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32468491
16.
Detection of KRAS mutations in liquid biopsies from metastatic colorectal cancer patients using droplet digital PCR, Idylla, and next generation sequencing.
PLoS One
; 15(11): e0239819, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33237900
17.
A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.
Eur J Med Genet
; 63(3): 103766, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31536827
18.
Urine microRNA Proï¬ling Displays miR-125a Dysregulation in Children with Fragile X Syndrome.
Cells
; 9(2)2020 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31991700
19.
Phenotypic and Imaging Spectrum Associated With WDR45.
Pediatr Neurol
; 109: 56-62, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32387008
20.
Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome.
Eur J Hum Genet
; 16(8): 961-9, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18285827