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12 results on '"Giese AP"'

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1. Proposed therapy, developed in a Pcdh15 -deficient mouse, for progressive loss of vision in human Usher syndrome.

2. FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.

3. Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.

4. Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.

5. Radioprotective Effect of Aminothiol PrC-210 on Irradiated Inner Ear of Guinea Pig.

7. A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.

8. Rare A2ML1 variants confer susceptibility to otitis media.

9. Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.

10. An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans.

11. Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

12. Gipc1 has a dual role in Vangl2 trafficking and hair bundle integrity in the inner ear.

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