9 results on '"Jhangiani, Shalini N."'
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2. The impact of the Turkish population variome on the genomic architecture of rare disease traits
3. NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy
4. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
5. The impact of the Turkish (TK) population variome on the genomic architecture of rare disease traits
6. Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32
7. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
8. Closing the gap: Solving complex medically relevant genes at scale.
9. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
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