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Your search keyword '"Sole G"' showing total 13 results

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13 results on '"Sole G"'

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1. A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.

2. Fetal phenotypes in otopalatodigital spectrum disorders.

3. [Charcot-Marie-Tooth disease associated with periaxin mutations (CMT4F): Clinical, electrophysiological and genetic analysis of 24 patients].

4. A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations.

5. TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.

6. SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.

7. Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma.

8. A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia.

9. A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. Online.

10. Fetal phenotypes in otopalatodigital spectrum disorders

11. A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. Online

12. A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

13. 'Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma'

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