Detalles de la búsqueda
1.
Neurological function and drug-refractory epilepsy in Sturge-Weber syndrome children: a retrospective analysis.
Eur J Pediatr;
183(4): 1881-1890, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38305888
2.
Variants in BSN gene associated with epilepsy with favourable outcome.
J Med Genet;
60(8): 776-783, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-36600631
3.
[Analysis of a child with CLN1 neuronal ceroid lipofuscinosis in conjunct with Hereditary hyperferinemia cataract syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
41(1): 75-80, 2024 Jan 10.
Artículo
en Zh
| MEDLINE | ID: mdl-38171563
4.
[Clinical and genetic analysis of a child with X-linked mental retardation due to variant of SLC9A7 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
41(6): 730-733, 2024 Jun 10.
Artículo
en Zh
| MEDLINE | ID: mdl-38818559
5.
[Analysis of ADAR gene variants in a Chinese pedigree affected with Dyschromatosis symmetrica hereditaria in conjunct with developmental delay].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
41(5): 591-595, 2024 May 10.
Artículo
en Zh
| MEDLINE | ID: mdl-38684307
6.
[Analysis of OTC gene variants in four children with delayed onset Ornithine transcarbamylase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
40(3): 328-331, 2023 Mar 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36854409
7.
[Clinical characteristics and prognosis of acute pancreatitis in children]. / å¿ç«¥æ¥æ§è°è ºç临åºç¹å¾ä¸é¢ååæ.
Zhongguo Dang Dai Er Ke Za Zhi;
25(9): 947-952, 2023.
Artículo
en Zh
| MEDLINE | ID: mdl-37718401
8.
Overlapping infection of Nocardia farcinica and Aspergillus fumigatus in a child with X-linked chronic granulomatous disease: a case report.
BMC Infect Dis;
22(1): 69, 2022 Jan 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-35057749
9.
[Analysis of clinical phenotype and genetic variant in a case of familial hemophagocytic lymphohistiocytosis type â ¢].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
39(6): 616-620, 2022 Jun 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35773766
10.
[Clinical and genetic analysis of a child with mental retardation autosomal dominant 7].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
39(5): 530-533, 2022 May 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35598272
11.
Inhibition of miR-181a-5p reduces astrocyte and microglia activation and oxidative stress by activating SIRT1 in immature rats with epilepsy.
Lab Invest;
100(9): 1223-1237, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32461588
12.
Association of TP53 rs1042522 C>G and miR-34b/c rs4938723 T>C polymorphisms with hepatoblastoma susceptibility: A seven-center case-control study.
J Gene Med;
22(7): e3182, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32166848
13.
Silencing of long non-coding RNA DLX6-AS1 weakens neuroblastoma progression by the miR-513c-5p/PLK4 axis.
IUBMB Life;
72(12): 2627-2636, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33031637
14.
Two new compounds from the roots of Scrophularia ningpoensis and their anti-inflammatory activities.
J Asian Nat Prod Res;
21(11): 1083-1089, 2019 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-30612466
15.
[Application of next-generation sequencing in the molecular diagnosis of Duchenne muscular dystrophy].
Zhongguo Dang Dai Er Ke Za Zhi;
21(3): 244-248, 2019 Mar.
Artículo
en Zh
| MEDLINE | ID: mdl-30907348
16.
[Identification of pathogenic mutation in a Chinese pedigree affected with split hand/split foot malformation].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
35(6): 808-811, 2018 Dec 10.
Artículo
en Zh
| MEDLINE | ID: mdl-30512151
17.
Elevated interictal serum galectin-3 levels in intractable epilepsy.
Neurol India;
64(2): 233-6, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26954798
18.
[Change in serum intestinal fatty acid binding protein and its significance in children with pneumonia and gastrointestinal injury].
Zhongguo Dang Dai Er Ke Za Zhi;
18(7): 603-6, 2016 Jul.
Artículo
en Zh
| MEDLINE | ID: mdl-27412542
19.
[Early prenatal diagnosis for a family affected with X-linked spondyloepiphyseal dysplasia tarda family].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
31(2): 144-7, 2014 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-24711020
20.
Association of FAT1 with focal epilepsy and correlation between seizure relapse and gene expression stage.
Seizure;
116: 37-44, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36941137