Detalles de la búsqueda
1.
Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy.
Hum Mol Genet
; 2024 Mar 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-38520738
2.
Tryptophanylation of insulin receptor by WARS attenuates insulin signaling.
Cell Mol Life Sci
; 81(1): 25, 2024 Jan 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-38212570
3.
Efficacy and Safety of Secukinumab for the Treatment of Psoriasis: A Meta-Analysis of Pivotal Phase III Trials.
Dermatology
; 240(2): 271-281, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-37926074
4.
Study on genetic characteristics of Cryptosporidium isolates and first report of C. parvum IIdA24G2 subtype in dairy cattle in China.
Parasitol Res
; 123(1): 81, 2024 Jan 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-38165486
5.
Metagenomic analysis of gut microbiome and resistome of Whooper and Black Swans: a one health perspective.
BMC Genomics
; 24(1): 635, 2023 Oct 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-37875797
6.
Application of self-anchored lateral lumbar interbody fusion in lumbar degenerative diseases.
BMC Musculoskelet Disord
; 24(1): 836, 2023 Oct 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-37872610
7.
Morphological and molecular biology identification of Cystoisospora sp. in the blue fox, Alopex lagopus (Linnaeus, 1758).
Parasitol Res
; 123(1): 35, 2023 Dec 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-38086981
8.
[Analysis of CNNM2 gene variant in a child with Hypomagnesemia, seizures, and mental retardation syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(8): 1004-1008, 2023 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-37532502
9.
[Clinical and genetic analysis of a very early-onset inflammatory bowel disease type 28 child with atypical clinical manifestation].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(8): 1015-1020, 2023 Aug 10.
Artículo
en Zh
| MEDLINE | ID: mdl-37532504
10.
[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
11.
[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
12.
[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
13.
Eimeria spp. (Eimeriidae) in the migratory whooper swan (Cygnus cygnus) Linnaeus, 1758 (Anatidae) from Sanmenxia Swan Lake National Urban Wetland Park in the middle reaches of the Yellow River in China.
Parasitol Res
; 121(10): 2967-2977, 2022 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-35986168
14.
Diterpenoid Alkaloids Isolated from Delphinium brunonianum and Their Inhibitory Effects on Hepatocytes Lipid Accumulation.
Molecules
; 27(7)2022 Mar 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-35408656
15.
[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
16.
[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
17.
Occurrence and molecular characterization of Cryptosporidium spp., Giardia duodenalis, Enterocytozoon bieneusi, and Blastocystis sp. in captive wild animals in zoos in Henan, China.
BMC Vet Res
; 17(1): 332, 2021 Oct 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-34663327
18.
Cryptosporidium and cryptosporidiosis in wild birds: A One Health perspective.
Parasitol Res
; 120(9): 3035-3044, 2021 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-34401942
19.
Morphological and molecular characterization of Cystoisospora yuensis n. sp. and Cystoisospora rastegaievae (Protozoa: Eimeriidae) in amur hedgehogs, Erinaceus amurensis (Schrenk, 1859).
Parasitol Res
; 120(1): 73-81, 2021 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-33191445
20.
[Genetic analysis of a case with Pitt-Hopkins syndrome due to variant of TCF4 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(11): 1253-1256, 2020 Nov 10.
Artículo
en Zh
| MEDLINE | ID: mdl-33179233