Detalles de la búsqueda
1.
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients.
J Med Genet
; 61(1): 27-35, 2023 Dec 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-37586839
2.
[Analysis of disease spectrum for abnormal 3-hydroxyisovalerylcarnitine metabolism identified through newborn screening and clinical diagnosis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(12): 1466-1471, 2023 Dec 10.
Artículo
en Zh
| MEDLINE | ID: mdl-37994125
3.
Preparation and characterization of small-diameter decellularized scaffolds for vascular tissue engineering in an animal model.
Biomed Eng Online
; 16(1): 55, 2017 May 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28494781
4.
[Analysis of NF2 gene mutations in intraspinal Schwannomas].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 34(5): 637-641, 2017 Oct 10.
Artículo
en Zh
| MEDLINE | ID: mdl-28981922
5.
KaryoXpert: An accurate chromosome segmentation and classification framework for karyotyping analysis without training with manually labeled metaphase-image mask annotations.
Comput Biol Med
; 177: 108601, 2024 May 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-38776728
6.
Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.
Orphanet J Rare Dis
; 19(1): 75, 2024 Feb 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-38365697
7.
A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency.
Mol Syndromol
; 14(1): 71-79, 2023 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-36777708
8.
Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.
Orphanet J Rare Dis
; 18(1): 126, 2023 05 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-37237297
9.
Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency.
J Clin Lipidol
; 17(6): 808-817, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37858495
10.
Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.
World J Pediatr
; 2023 Dec 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-38070096
11.
Ignition and Combustion Characteristic of B·Mg Alloy Powders.
Materials (Basel)
; 15(8)2022 Apr 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35454411
12.
Effects of Cerium Doping on the Mechanical Properties and Energy-Releasing Behavior of High-Entropy Alloys.
Materials (Basel)
; 15(20)2022 Oct 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-36295394
13.
Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China.
Front Genet
; 13: 1062715, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36568374
14.
Cobalt nanofibers coated with layered nickel silicate coaxial core-shell composites as excellent anode materials for lithium ion batteries.
J Colloid Interface Sci
; 513: 788-796, 2018 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29222978
15.
Cobalt fibers anchored with tin disulfide nanosheets as high-performance anode materials for lithium ion batteries.
J Colloid Interface Sci
; 506: 291-299, 2017 Nov 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-28738280
Resultados
1 -
15
de 15
1
Próxima >
>>