Detalles de la búsqueda
1.
Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese population.
J Hum Genet
; 2024 Jun 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-38880818
2.
[Clinical and genetic analysis of a child with Canavan disease due to compound heterozygous variants of ASPA gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(2): 225-229, 2024 Feb 10.
Artículo
en Zh
| MEDLINE | ID: mdl-38311564
3.
Relationship between gut microbiota dysbiosis and immune indicator in children with sepsis.
BMC Pediatr
; 23(1): 516, 2023 10 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-37845615
4.
[Clinical and ASS1 gene variant analysis of three Chinese pedigrees affected with Citrullinemia type I].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(11): 1345-1349, 2023 Nov 10.
Artículo
en Zh
| MEDLINE | ID: mdl-37906139
5.
[Clinical characteristics and genetic analysis of two children with Autosomal dominant mental retardation type 21 due to variants of CTCF gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(5): 543-546, 2023 May 10.
Artículo
en Zh
| MEDLINE | ID: mdl-37102286
6.
[Diagnosis of a case with Hermansky-Pudlak syndrome type 5 through high-throughput sequencing and a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(11): 1392-1396, 2023 Nov 10.
Artículo
en Zh
| MEDLINE | ID: mdl-37906148
7.
A potential pathogenic hypoxia-related gene HK2 in necrotizing enterocolitis (NEC) of newborns.
BMC Pediatr
; 22(1): 617, 2022 10 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-36289463
8.
[Analysis of ADNP gene variant in a child with Helsmoortel-van der Aa syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(4): 428-432, 2022 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35446982
9.
[Clinical and genetic analysis of a child with ZTTK syndrome due to heterozygous variant of SON gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(3): 316-320, 2022 Mar 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35315044
10.
[Analysis of a child with Johanson-Blizzard syndrome due to novel compound heterozygous variants of UBR1 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(12): 1379-1384, 2022 Dec 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36453963
11.
[Genetic analysis of a child with combined oxidative phosphorylation deficiency 14 due to variant of FARS2 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(12): 1393-1397, 2022 Dec 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36453966
12.
[Analysis of TNPO3 gene variant and clinical phenotype in a neonate with limb-girdle muscular dystrophies form 1F].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(9): 979-982, 2022 Sep 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36082569
13.
[Clinical characteristics and identification of a novel IL10RA variant in association with very early-onset inflammatory bowel disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(9): 992-995, 2022 Sep 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36082572
14.
[Analysis of PRX gene variants in a child with Charcot-Marie-Tooth disease type 4F].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(7): 749-753, 2022 Jul 10.
Artículo
en Zh
| MEDLINE | ID: mdl-35810435
15.
Is asthma an exclusionary condition for SARS-CoV-2 infection in China? -the relationship between asthma and COVID-19.
J Asthma
; 58(10): 1337-1339, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32600166
16.
Great Expectations: Induced pluripotent stem cell technologies in neurodevelopmental impairments.
Int J Med Sci
; 18(2): 459-473, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33390815
17.
[Identification of a GNB1 gene variant in a child with autosomal dominant mental retardation 42].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(6): 565-568, 2021 Jun 10.
Artículo
en Zh
| MEDLINE | ID: mdl-34096027
18.
Probiotics and fructo-oligosaccharide intervention modulate the microbiota-gut brain axis to improve autism spectrum reducing also the hyper-serotonergic state and the dopamine metabolism disorder.
Pharmacol Res
; 157: 104784, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32305492
19.
Blood Loss Leads to Increase in Relative Abundance of Opportunistic Pathogens in the Gut Microbiome of Rabbits.
Curr Microbiol
; 77(3): 415-424, 2020 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-31894374
20.
[Clinical and genetic analysis of a pedigree affected with cytochrome P450 oxidoreductase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(9): 1005-1008, 2020 Sep 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32820517