Detalhe da pesquisa
1.
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Brain
; 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38527963
2.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Brain
; 147(4): 1436-1456, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37951597
3.
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Brain
; 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38456468
4.
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain
; 146(8): 3273-3288, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36757831
5.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Brain
; 146(12): 5031-5043, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37517035
6.
Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS.
Clin Genet
; 104(2): 238-244, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37055917
7.
A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.
Clin Genet
; 102(6): 530-536, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35932216
8.
Improving Self-Care in Patients With Coexisting Type 2 Diabetes and Hypertension by Technological Surrogate Nursing: Randomized Controlled Trial.
J Med Internet Res
; 22(3): e16769, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32217498
9.
The accuracy and acceptability of performing capillary blood glucose measurements at the earlobe.
J Adv Nurs
; 72(8): 1766-73, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27380764
10.
Identification of CD44+ cancer stem cells in human gastric cancer.
Hepatogastroenterology
; 60(124): 949-54, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23478146
11.
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.
Genome Med
; 15(1): 102, 2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38031187
12.
Phenotypic continuum of NFU1-related disorders.
Ann Clin Transl Neurol
; 9(12): 2025-2035, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36256512
13.
Up-regulation of TWIST in prostate cancer and its implication as a therapeutic target.
Cancer Res
; 65(12): 5153-62, 2005 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15958559
14.
Clinicopathological significance of loss of heterozygosity on chromosome 13q in hepatocellular carcinoma.
Clin Cancer Res
; 8(7): 2266-72, 2002 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12114430
15.
Doxorubicin-induced apoptosis and chemosensitivity in hepatoma cell lines.
Cancer Chemother Pharmacol
; 49(1): 78-86, 2002 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-11855756
16.
An N-terminal truncated carboxypeptidase E splice isoform induces tumor growth and is a biomarker for predicting future metastasis in human cancers.
J Clin Invest
; 130: 1804, 2019 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30882370
17.
An N-terminal truncated carboxypeptidase E splice isoform induces tumor growth and is a biomarker for predicting future metastasis in human cancers.
J Clin Invest
; 121(3): 880-92, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21285511
18.
Overexpression of Id-1 in prostate cancer cells promotes angiogenesis through the activation of vascular endothelial growth factor (VEGF).
Carcinogenesis
; 26(10): 1668-76, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15905202