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1.
[Clinical and genetic analysis of a child with Culler-Jones syndrome due to variant of GLI2 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(2): 217-221, 2023 Feb 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36709944
2.
[Analysis of a Chinese pedigree affected with familial short stature due to 15q25.3q26.1 deletion involving the ACAN gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(4): 478-482, 2023 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36972946
3.
[A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(6): 641-647, 2023 Jun 10.
Artículo
en Zh
| MEDLINE | ID: mdl-37211996
4.
Predictive Care Improves Recovery Status and Complications after Ureteral Calculi Surgery: A Retrospective Study.
Arch Esp Urol
; 77(4): 433-439, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38840288
5.
Case Report: Identification of a novel PRR12 variant in a Chinese boy with developmental delay and short stature.
Front Pediatr
; 12: 1367131, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38798311
6.
Metformin plus L-carnitine enhances brown/beige adipose tissue activity via Nrf2/HO-1 signaling to reduce lipid accumulation and inflammation in murine obesity.
Open Med (Wars)
; 19(1): 20240900, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38463531
7.
The significance of machine learning in neonatal screening for inherited metabolic diseases.
Front Pediatr
; 12: 1366891, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38577637
8.
Ovotesticular Disorder of Sex Development Presenting as a Scrotal Emergency.
Pediatrics
; 152(6)2023 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37990579
9.
KISS1/KISS1R mediates Sertoli cell apoptosis via the PI3K/AKT signalling pathway in a highglucose environment.
Mol Med Rep
; 23(6)2021 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-33899117
10.
Identification of Six Novel Variants of ACAD8 in Isobutyryl-CoA Dehydrogenase Deficiency With Increased C4 Carnitine Using Tandem Mass Spectrometry and NGS Sequencing.
Front Genet
; 12: 791869, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-35154245
11.
Curcumin Inhibited Podocyte Cell Apoptosis and Accelerated Cell Autophagy in Diabetic Nephropathy via Regulating Beclin1/UVRAG/Bcl2.
Diabetes Metab Syndr Obes
; 13: 641-652, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32184643
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