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1.
Clinical and genetic features of 5 alpha-reductase type2 deficiency caused by SRD5A2 gene variants / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
; (12): 683-688, 2023.
Artículo
en Zh
| WPRIM | ID: wpr-994376
2.
Application of low-depth whole genome sequencing for copy number variation analysis in children with disorders of sex development / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 195-201, 2023.
Artículo
en Zh
| WPRIM | ID: wpr-970904
3.
Genetic analysis of a rare case with Disorder of sex development due to structural rearrangement of Y chromosome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1430-1435, 2023.
Artículo
en Zh
| WPRIM | ID: wpr-1009317
4.
Cell-free DNA barcode-enabled single-molecule test for non-invasive prenatal diagnosis of phenylketonuria: an analysis of four cases / 中华围产医学杂志
Chinese Journal of Perinatal Medicine
; (12): 126-130, 2021.
Artículo
en Zh
| WPRIM | ID: wpr-885527
5.
Cytogenetic and molecular genetics of a rare case with Turner syndrome / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
; (12): 162-164, 2021.
Artículo
en Zh
| WPRIM | ID: wpr-885098
6.
Genotype-phenotype and genetic analysis in five patients with Kallmann syndrome / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
; (12): 1106-1111, 2021.
Artículo
en Zh
| WPRIM | ID: wpr-933356
7.
Genetic analysis of a case with ectodermal dysplasia using whole exome sequencing / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1265-1268, 2020.
Artículo
en Zh
| WPRIM | ID: wpr-879482
8.
Non-invasive prenatal diagnosis of ectodermal dysplasia caused by EDA gene mutation: a case report / 中华围产医学杂志
Chinese Journal of Perinatal Medicine
; (12): 456-459, 2020.
Artículo
en Zh
| WPRIM | ID: wpr-871093
9.
Genetic diagnosis for a patient with Leydig cell hypoplasia caused by two novel variants of LHCGR gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 819-822, 2020.
Artículo
en Zh
| WPRIM | ID: wpr-826479
10.
Phenotypic and genetic characteristics of a child with 7p15 deletion syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 855-858, 2020.
Artículo
en Zh
| WPRIM | ID: wpr-826471
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