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Your search keyword '"Bujakowska Kinga M"' showing total 15 results

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15 results on '"Bujakowska Kinga M"'

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1. Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

2. Heterozygous loss-of-functionSMC3variants are associated with variable and incompletely penetrant growth and developmental features

3. Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

5. Identification of a novel large multigene deletion and a frameshift indel inPDE6Bas the underlying cause of early-onset recessive rod–cone degeneration

8. Early onset non-syndromic retinal degeneration due to variants in INPP5E: phenotypic expansion of the ciliary gene previously associated with Joubert syndrome

9. Expanding the phenotypic spectrum in RDH12-associated retinal disease

10. A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families

11. Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

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