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1.
Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX.
Clin Genet
; 2024 Apr 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38576397
2.
[Analysis of clinical phenotype and genetic variants in a child with mitochondrial F-S disease due to variants of FDXR gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(4): 413-418, 2023 Apr 10.
Artículo
en Zh
| MEDLINE | ID: mdl-36972934
3.
Hepatic phenotypes of EFL1-related Shwachman-Diamond syndrome in a biopsy-validated study.
J Hepatol
; 2024 May 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-38703831
4.
Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults.
Orphanet J Rare Dis
; 19(1): 157, 2024 Apr 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-38610052
5.
Two novel variants of the STXBP1 and CHRNB2 genes identified in a Chinese boy with refractory seizures and developmental delay.
Psychiatr Genet
; 33(5): 206-212, 2023 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37706497
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