Detalhe da pesquisa
1.
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.
Hum Mol Genet
; 28(1): 96-104, 2019 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30239721
2.
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.
Gastroenterology
; 155(1): 130-143.e15, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29604290
3.
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
Hum Mol Genet
; 25(11): 2158-2167, 2016 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27005418
4.
Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring.
Am J Hum Genet
; 96(4): 651-6, 2015 Apr 02.
Artigo
Inglês
| MEDLINE | ID: mdl-25799107
5.
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
J Med Genet
; 53(1): 62-72, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26490104
6.
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
Inglês
| MEDLINE | ID: mdl-26845106
7.
Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline.
Hum Mol Genet
; 20(10): 1916-24, 2011 May 15.
Artigo
Inglês
| MEDLINE | ID: mdl-21349919
8.
Effect of vertical sleeve gastrectomy in melanocortin receptor 4-deficient rats.
Am J Physiol Endocrinol Metab
; 303(1): E103-10, 2012 Jul 01.
Artigo
Inglês
| MEDLINE | ID: mdl-22535749
9.
Identification of human D lactate dehydrogenase deficiency.
Nat Commun
; 10(1): 1477, 2019 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30931947
10.
Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders.
Dis Model Mech
; 11(10)2018 10 18.
Artigo
Inglês
| MEDLINE | ID: mdl-30355756
11.
Characterization of COMMD protein-protein interactions in NF-kappaB signalling.
Biochem J
; 398(1): 63-71, 2006 Aug 15.
Artigo
Inglês
| MEDLINE | ID: mdl-16573520
12.
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.
J Clin Invest
; 127(3): 1005-1018, 2017 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28192369
13.
Joubert syndrome: genotyping a Northern European patient cohort.
Eur J Hum Genet
; 24(2): 214-20, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25920555
14.
Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI).
Fertil Steril
; 97(1): 141-6.e2, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22100173
15.
Discovery of variants unmasked by hemizygous deletions.
Eur J Hum Genet
; 20(7): 748-53, 2012 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-22258528