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1.
[Identification of novel pathogenic variants of TRIOBP gene in a pedigree affected with non-syndromic deafness].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(5): 454-457, 2021 May 10.
Artículo
en Zh
| MEDLINE | ID: mdl-33974254
2.
[Analysis of molecular genetics and clinical characteristics of 3 children with Waardenburg syndrome].
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
; 37(2): 107-112, 2023 Feb.
Artículo
en Zh
| MEDLINE | ID: mdl-36756824
3.
A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts.
Mol Genet Genomic Med
; 8(10): e1447, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32770655
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