Detalhe da pesquisa
1.
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Am J Hum Genet
; 102(1): 116-132, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290337
2.
FOXL2 and TERT promoter mutation detection in circulating tumor DNA of adult granulosa cell tumors as biomarker for disease monitoring.
Gynecol Oncol
; 162(2): 413-420, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34083028
3.
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
Am J Hum Genet
; 99(4): 934-941, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616479
4.
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
Hum Mol Genet
; 25(11): 2158-2167, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27005418
5.
Monocarboxylate transporter 1 deficiency and ketone utilization.
N Engl J Med
; 371(20): 1900-7, 2014 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-25390740
6.
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
J Med Genet
; 53(1): 62-72, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26490104
7.
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.
BMC Genomics
; 17(1): 839, 2016 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-27793082
8.
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.
Kidney Int
; 89(2): 476-86, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26489027
9.
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.
Genet Med
; 18(9): 949-56, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26845106
10.
A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses.
BMC Genomics
; 16: 761, 2015 Oct 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26452345
11.
Loss of syntaxin 3 causes variant microvillus inclusion disease.
Gastroenterology
; 147(1): 65-68.e10, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24726755
12.
Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.
Am J Med Genet A
; 167(6): 1196-203, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25845371
13.
Familial Occurrence of Adult Granulosa Cell Tumors: Analysis of Whole-Genome Germline Variants.
Cancers (Basel)
; 13(10)2021 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34069790
14.
[18F]FDG and [18F]FES positron emission tomography for disease monitoring and assessment of anti-hormonal treatment eligibility in granulosa cell tumors of the ovary.
Oncotarget
; 12(7): 665-673, 2021 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33868587
15.
Investigation of Genetic Modifiers of Copper Toxicosis in Labrador Retrievers.
Life (Basel)
; 10(11)2020 Oct 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33142854
16.
Partner independent fusion gene detection by multiplexed CRISPR-Cas9 enrichment and long read nanopore sequencing.
Nat Commun
; 11(1): 2861, 2020 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32504042
17.
Identification of human D lactate dehydrogenase deficiency.
Nat Commun
; 10(1): 1477, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30931947
18.
Whole-exome sequencing in intellectual disability; cost before and after a diagnosis.
Eur J Hum Genet
; 26(11): 1566-1571, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29959382
19.
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.
J Clin Invest
; 127(3): 1005-1018, 2017 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28192369
20.
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.
Eur J Hum Genet
; 24(9): 1363-6, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26956253