Detalhe da pesquisa
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37658228
2.
Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia.
BMC Endocr Disord
; 24(1): 8, 2024 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38212772
3.
Screening/diagnosis of pediatric endocrine disorders through the artificial intelligence model in different language settings.
Eur J Pediatr
; 183(6): 2655-2661, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38502320
4.
Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study.
BMC Pediatr
; 24(1): 133, 2024 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38373926
5.
[Treatment of ornithine transcarbamylase deficiency in a child with glyceryl phenylbutyrate]. / è¯ä¸é ¸çæ²¹é ¯æ²»çå¿ç«¥é¸æ°¨é ¸æ°¨ç²é °åºè½¬ç§»é ¶ç¼ºä¹ç1ä¾.
Zhongguo Dang Dai Er Ke Za Zhi
; 26(5): 512-517, 2024 May 15.
Artigo
em Zh
| MEDLINE | ID: mdl-38802913
6.
Germline Neurofibromin 1 mutation enhances the anti-tumour immune response and decreases juvenile myelomonocytic leukaemia tumourigenicity.
Br J Haematol
; 202(2): 328-343, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37144690
7.
Integration of Protein Nanocage with CpG Motifs: A Virus-Mimicked Core-Shell Nanostructure to Ignite Antitumor Immunity.
Small
; 19(40): e2301281, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37287345
8.
A dual biomarker-targeting probe enables signal-on surface labeling of Staphylococcus aureus.
Bioorg Med Chem Lett
; 93: 129428, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37541632
9.
Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China.
BMC Pediatr
; 23(1): 138, 2023 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36991406
10.
Corynoline ameliorates dextran sulfate sodium-induced colitis in mice by modulating Nrf2/NF-κB pathway.
Immunopharmacol Immunotoxicol
; 45(1): 26-34, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35980837
11.
Approved Small-Molecule ATP-Competitive Kinases Drugs Containing Indole/Azaindole/Oxindole Scaffolds: R&D and Binding Patterns Profiling.
Molecules
; 28(3)2023 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36770611
12.
[Clinical characteristics and genetic analysis of a patient with STISS syndrome due to variant of PSMD12 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(3): 349-353, 2023 Mar 10.
Artigo
em Zh
| MEDLINE | ID: mdl-36854413
13.
[Identification of a child with Teebi hypertelorism syndrome 1 due to variant of SPECC1L gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(8): 998-1003, 2023 Aug 10.
Artigo
em Zh
| MEDLINE | ID: mdl-37532501
14.
Autosomal dominant neurodevelopmental disorders associated with KIF1A gene variants in 6 pediatric patients. / å ä¾KIF1Aåºå åå¼ç¸å ³å¸¸æè²ä½æ¾æ§éä¼ ç¥ç»åè²éç¢æ£å¿ä¸´åºåéä¼ å¦åæ.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 52(6): 693-700, 2023 Dec 12.
Artigo
em Inglês, Zh
| MEDLINE | ID: mdl-38105687
15.
Clinical characteristics and genetic analysis of a child with specific type of diabetes mellitus caused by missense mutation of GATA6 gene. / ä¸ä¾GATA6åºå åå¼å¼èµ·å¿ç«¥ç¹æ®ç±»åç³å°¿ç ç临åºç¹ç¹ååºå åå¼åæ.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 52(6): 732-737, 2023 Dec 13.
Artigo
em Inglês, Zh
| MEDLINE | ID: mdl-38105674
16.
C-terminal mini-PEGylation of a marine peptide N6 had potent antibacterial and anti-inflammatory properties against Escherichia coli and Salmonella strains in vitro and in vivo.
BMC Microbiol
; 22(1): 128, 2022 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35549900
17.
Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children.
BMC Endocr Disord
; 22(1): 70, 2022 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35296306
18.
Effects of childhood obesity and related genetic factors on precocious puberty: protocol for a multi-center prospective cohort study.
BMC Pediatr
; 22(1): 310, 2022 05 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35624438
19.
Maternal diabetes induces autism-like behavior by hyperglycemia-mediated persistent oxidative stress and suppression of superoxide dismutase 2.
Proc Natl Acad Sci U S A
; 116(47): 23743-23752, 2019 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-31685635
20.
A prospective on multiple biological activities of lactoferrin contributing to piglet welfare.
Biochem Cell Biol
; 99(1): 66-72, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32597211