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CRLF2_sequencing_project_
Study
EGAS00001000080
-
An integrative model of pathway convergence in genetically heterogeneous blast crisis chronic myeloid leukemia (CML)
Study
EGAS00001001751
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Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathie
Study
EGAS00001002506
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Genome wide association study on coronary heart disease in patients with familial hypercholesterolemia
Study
EGAS00001000734
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Unraveling_the_genetic_basis_of_a_collagen_migration_defect_in_patients_with_a_combined__platelet_dysfunction_and_reduced_bone_density
Study
EGAS00001000093
-
Ashkenazi Jewish Leukoencephalopathy
Study
EGAS00001001767
-
Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region mutation and known pathogenic mutation in SPG11
Study
EGAS00001001849
-
Recurrent somatic JAK-STAT mutations within a novel RUNX1-mutated pedigree
Study
EGAS00001001862
-
HipSci_RNASEQ_Kabuki
Study
EGAS00001001989
-
Exome_sequencing_of_a_Novel_Primary_T_Cell_Immunodeficiency_Kindred
Study
EGAS00001000099