246 results for "study_type:"exome sequencing" AND repository:ega"

in 4.70 milliseconds.

• The Xq22.3 contiguous gene deletion syndrome (ATS-ID)

  Study EGAS00001005354

• The Xq22.3 contiguous gene deletion syndrome (ATS-ID): from genotype to further delineation of the phenotype

  Study EGAS00001005357

• Retinal Dystrophy_analysis

  Study EGAS00001005369

• Evidence that ciliary genes contribute to non-syndromic familial tall stature

  Study EGAS00001005372

• PIK3CA mutation in a case of CTNNB1 mutant sinonasal glomangiopericytoma

  Study EGAS00001005653

• Searching for genetic modulators of the phenotypic heterogeneity in Brugada Syndrome

  Study EGAS00001005848

• JEM 20211004R

  Study EGAS00001005764

• Longitudinal single-cell transcriptomics reveals distinct patterns of recurrence in acute myeloid leukemia

  Study EGAS00001005820

• TLR7 variants in human lupus patients

  Study EGAS00001005965

• Exome sequencing in CLL re-treated with venetoclax

  Study EGAS00001006158