Detalhe da pesquisa
1.
lncRNA BREA2 promotes metastasis by disrupting the WWP2-mediated ubiquitination of Notch1.
Proc Natl Acad Sci U S A
; 120(8): e2206694120, 2023 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36795754
2.
A case report on deficiency of adenosine deaminase 2 with relapse-remission course and analysis of genotype-phenotype correlation.
Am J Med Genet A
; 194(6): e63568, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38353426
3.
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
BMC Pediatr
; 24(1): 96, 2024 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38310242
4.
[Analysis of clinical characteristics and ATP7A gene variants in a Chinese pedigree affected with Menkes disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(12): 1504-1507, 2023 Dec 10.
Artigo
em Zh
| MEDLINE | ID: mdl-37994131
5.
[Genetic analysis of a child with Charlevoix-Saguenay spastic ataxia due to variant of SACS gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(5): 558-562, 2023 May 10.
Artigo
em Zh
| MEDLINE | ID: mdl-37102289
6.
Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability.
Neurogenetics
; 23(3): 179-185, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35391588
7.
A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review.
J Hum Genet
; 67(2): 79-85, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34376795
8.
Novel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case report.
BMC Pediatr
; 22(1): 629, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36329391
9.
[De novo variant of CSNK2B causes Poirier-Bienvenu neurodevelopmental syndrome: two case report].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(5): 484-487, 2022 May 10.
Artigo
em Zh
| MEDLINE | ID: mdl-35598262
10.
[Analysis of a case with Xia-Gibbs syndrome due to variant of AHDC1 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(4): 397-400, 2022 Apr 10.
Artigo
em Zh
| MEDLINE | ID: mdl-35446974
11.
[Analysis of clinical features and ZBTB18 gene variant in a child with autosomal dominant mental disorder type 22].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(3): 293-296, 2022 Mar 10.
Artigo
em Zh
| MEDLINE | ID: mdl-35315038
12.
Prediction and prognostic significance of BCAR3 expression in patients with multiple myeloma.
J Transl Med
; 16(1): 363, 2018 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30563570
13.
De novo variant of SETD1A causes neurodevelopmental disorder with dysmorphic facies: A case report.
Psychiatry Clin Neurosci
; 76(2): 58-59, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34716975
14.
De novo variants of IRF2BPL result in developmental epileptic disorder.
Orphanet J Rare Dis
; 19(1): 121, 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38481258
15.
Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cysts.
Mol Genet Genomic Med
; 12(2): e2394, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38337154
16.
A de novo variant of BICRA results in Coffin-Siris syndrome 12.
Mol Genet Genomic Med
; 11(11): e2250, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37485815
17.
Novel KCNC2 variant associated with developmental and epileptic encephalopathy.
Int J Dev Neurosci
; 83(4): 357-367, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37203270
18.
A novel variant in BCL11B in an individual with neurodevelopmental delay: A case report.
Mol Genet Genomic Med
; 11(4): e2132, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36683525
19.
Anti-AQP4-IgG-positive Leigh syndrome: A case report and review of the literature.
Front Pediatr
; 11: 1046731, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36814591
20.
Identification of a de novo variant in the ASXL2 gene related to Shashi-Pena syndrome.
Mol Genet Genomic Med
; 11(11): e2251, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37493007