Detalles de la búsqueda
1.
A novel mutation in intron 1 of Wnt1 causes developmental loss of dopaminergic neurons in midbrain and ASD-like behaviors in rats.
Mol Psychiatry;
28(9): 3795-3805, 2023 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-37658228
2.
Anti-metabolic glutamate receptor 5 encephalitis with gangliocytoma: a case and review of the literature.
BMC Neurol;
24(1): 27, 2024 Jan 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-38218780
3.
[Correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
41(4): 426-431, 2024 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-38565507
4.
De novo mutations within metabolism networks of amino acid/protein/energy in Chinese autistic children with intellectual disability.
Hum Genomics;
16(1): 52, 2022 11 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36320054
5.
Levetiracetam may be an unsuitable choice for patients with PRRT2-associated self-limited infantile epilepsy.
BMC Pediatr;
23(1): 529, 2023 10 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-37880614
6.
[Clinical and genetic analysis of a child with Mental retardation autosomal dominant 51].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
40(6): 696-700, 2023 Jun 10.
Artículo
en Zh
| MEDLINE | ID: mdl-37212005
7.
[Analysis of NR2F1 gene variant in a child with optic atrophy and global developmental delay].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
40(10): 1301-1305, 2023 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-37730236
8.
[Association between maternal gestational diabetes mellitus and the risk of autism spectrum disorder in offspring]. / æ¯äº²å¦å¨ ç³å°¿ç ä¸å代å¤ç¬ç谱系éç¢åçé£é©çå ³èåæ.
Zhongguo Dang Dai Er Ke Za Zhi;
25(8): 818-823, 2023 Aug 15.
Artículo
en Zh
| MEDLINE | ID: mdl-37668029
9.
Assessing the causal association between human blood metabolites and the risk of epilepsy.
J Transl Med;
20(1): 437, 2022 09 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-36180952
10.
[Diagnosis of a child with mitochondrial myopathy and cerebellar atrophy with ataxia due to compound heterozygous variants of MSTO1 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
39(4): 417-420, 2022 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35446979
11.
[Clinical characteristics and genetic analysis of a child with infantile Sandhoff disease and eosinophilia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
39(10): 1124-1128, 2022 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36184097
12.
A follow-up study in children with status epilepticus during sleep: From clinical spectrum to outcome.
Epilepsy Behav;
117: 107843, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33640565
13.
Truncating mutation in TANC2 in a Chinese boy associated with Lennox-Gastaut syndrome: a case report.
BMC Pediatr;
21(1): 546, 2021 12 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34861844
14.
[Glycogen storage syndrome type 0 caused by GYS2 gene variation and phenotypic differences between two siblings].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
38(11): 1110-1113, 2021 Nov 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34729754
15.
Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report.
BMC Med Genet;
21(1): 217, 2020 11 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33153448
16.
Neuropsychological Deficits in Patients with Electrical Status Epilepticus During Sleep: A Non-invasive Analysis of Neurovascular Coupling.
Brain Topogr;
33(3): 375-383, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32128654
17.
Network analysis of autistic disease comorbidities in Chinese children based on ICD-10 codes.
BMC Med Inform Decis Mak;
20(1): 268, 2020 10 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-33069223
18.
[Analysis of D4Z4 mutation in a child with facioscapulohumeral muscular dystrophy presented initially as mental retardation].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi;
37(2): 150-152, 2020 Feb 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32034742
19.
Acquired epileptiform opercular syndrome evaluated with real-time transcranial Doppler ultrasound-video-electroencephalogram before and after treatment: a case report.
BMC Neurol;
19(1): 166, 2019 Jul 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-31315588
20.
Delayed diagnosis of X-linked agammaglobulinaemia in a boy with recurrent meningitis.
BMC Neurol;
19(1): 320, 2019 Dec 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31830942