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Keyword [Targeted exome sequencing]
Result: 1 - 3 | Page: 1 of 1
1.
A Novel Splice Site Mutation In DFNA5 Gene Causing Autosomal Dominant Non-syndromic Hearing Loss
2.
Identification Of Causative Gene Mutation And Pathological Mechanism In A Bardet-biedl Syndrome Family
3.
Identification And Molecular Consequence Of A Disease Causing Gene In An Autosomal Dominant Congenital Cataract Family
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