Detalhe da pesquisa
1.
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Clin Genet
; 97(4): 556-566, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31957011
2.
Prolonged colonisation with Escherichia coli O25:ST131 versus other extended-spectrum beta-lactamase-producing E. coli in a long-term care facility with high endemic level of rectal colonisation, the Netherlands, 2013 to 2014.
Euro Surveill
; 21(42)2016 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-27784530
3.
Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14.
Clin Endocrinol (Oxf)
; 83(5): 671-6, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26119964
4.
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.
Hum Mutat
; 35(4): 462-9, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24415674
5.
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
J Med Genet
; 50(3): 174-86, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23315542
6.
Genetic findings in short Turkish children born to consanguineous parents.
Horm Res Paediatr
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38838658
7.
GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.
Am J Med Genet A
; 161A(5): 973-6, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23494849
8.
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
Eur J Med Genet
; 66(1): 104670, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36414205
9.
Duration of rectal colonization with extended-spectrum beta-lactamase-producing Escherichia coli: results of an open, dynamic cohort study in Dutch nursing home residents (2013-2019).
Antimicrob Resist Infect Control
; 11(1): 98, 2022 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35841002
10.
Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.
Eur J Endocrinol
; 186(5): 543-552, 2022 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35234134
11.
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.
Hum Mutat
; 29(11): E205-19, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18642388
12.
Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.
Am J Med Genet A
; 146A(1): 43-50, 2008 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18074359
13.
The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family.
Fam Cancer
; 6(1): 43-51, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17039270
14.
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.
NPJ Genom Med
; 12016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28868155
15.
Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer.
Clin Cancer Res
; 10(3): 972-80, 2004 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-14871975
16.
[Maternal uniparental disomy 14; differential diagnosis with Prader-Willi syndrome]. / Maternale uniparentale disomie 14. In de differentiaaldiagnose bij Prader-Willi-syndroom.
Ned Tijdschr Geneeskd
; 159: A8240, 2015.
Artigo
em Holandês
| MEDLINE | ID: mdl-25898865
17.
WT1 deletion leading to severe 46,XY gonadal dysgenesis, Wilms tumor and gonadoblastoma: case report.
Horm Res Paediatr
; 83(3): 211-6, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25613702
18.
Extensive dissemination of extended spectrum ß-lactamase-producing Enterobacteriaceae in a Dutch nursing home.
Infect Control Hosp Epidemiol
; 36(4): 394-400, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25782893
19.
Two sensitive and rapid chromogenic assays of fondaparinux sodium (Arixtra) in human plasma and other biological matrices.
Clin Lab
; 49(9-10): 451-60, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-14572200
20.
Measuring the quality of infection control in Dutch nursing homes using a standardized method; the Infection prevention RIsk Scan (IRIS).
Antimicrob Resist Infect Control
; 3: 26, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25243067