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Your search keyword '"Calvas, P"' showing total 11 results

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11 results on '"Calvas, P"'

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1. Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.

4. Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye.

5. Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma.

6. Searching for secondary findings: considering actionability and preserving the right not to know.

7. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

8. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.

9. Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.

10. Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.

11. Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.

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