Detalhe da pesquisa
1.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Genet Med
; 25(11): 100938, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37454282
2.
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.
Brain
; 142(8): 2230-2237, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31332433
3.
Non-invasive structure-function assessment of the liver by 2D time-harmonic elastography and the dynamic Liver MAximum capacity (LiMAx) test.
J Gastroenterol Hepatol
; 34(9): 1611-1619, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30756433
4.
A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif.
Hum Mutat
; 39(2): 193-196, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29124833
5.
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
J Neurochem
; 143(5): 507-522, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28902413
6.
Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes.
Pediatr Nephrol
; 29(10): 1915-25, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24114580
7.
DNA damage-induced transcriptional program in CLL: biological and diagnostic implications for functional p53 testing.
Blood
; 117(5): 1622-32, 2011 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-21115975
8.
Case report: Life threatening hyponatremia in infants with urinary tract infections: two cases of type III pseudohypoaldosteronism and review of the literature.
Front Pediatr
; 11: 1233205, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38250595
9.
CIMT 2021: report on the 18th Annual Meeting of the Association for Cancer Immunotherapy.
Hum Vaccin Immunother
; 18(1): 2024416, 2022 12 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35130105
10.
mRNA-based therapies: Preclinical and clinical applications.
Int Rev Cell Mol Biol
; 372: 1-54, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36064262
11.
Detailed analysis of p53 pathway defects in fludarabine-refractory chronic lymphocytic leukemia (CLL): dissecting the contribution of 17p deletion, TP53 mutation, p53-p21 dysfunction, and miR34a in a prospective clinical trial.
Blood
; 114(13): 2589-97, 2009 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-19643983
12.
miR-34a as part of the resistance network in chronic lymphocytic leukemia.
Blood
; 113(16): 3801-8, 2009 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-18941118
13.
"What I thought was so important isn't really that important": international perspectives on making meaning during the first wave of the COVID-19 pandemic.
Health Psychol Behav Med
; 9(1): 830-857, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34650834
14.
Higher-order genome organization in platypus and chicken sperm and repositioning of sex chromosomes during mammalian evolution.
Chromosoma
; 118(1): 53-69, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18726609
15.
Protein expression analysis of chronic lymphocytic leukemia defines the effect of genetic aberrations and uncovers a correlation of CDK4, P27 and P53 with hierarchical risk.
Haematologica
; 95(11): 1880-8, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20713460
16.
FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.
Parkinsonism Relat Disord
; 74: 6-11, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32268254
17.
α-Linolenic Acid-Rich Diet Influences Microbiota Composition and Villus Morphology of the Mouse Small Intestine.
Nutrients
; 12(3)2020 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32168729
18.
Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.
Acta Ophthalmol
; 93(4): e281-6, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25429852
19.
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
Eur J Hum Genet
; 22(1): 99-104, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23591405
20.
Effectiveness of dialectic behavioral therapy in routine outpatient care: the Berlin Borderline Study.
Borderline Personal Disord Emot Dysregul
; 1: 20, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-26401303