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

in 22.49 milliseconds.

• Novel de novo pathogenic variant in the GNAI1 as a cause of severe disorders of intellectual development with autistic features

  Study EGAS00001005346

• Multifocal ileal NETs study WES

  Study EGAS00001004680

• Whole exome sequencing from small cell lung cancer patients

  Study EGAS00001005087

• Whole Exome Sequencing of Spanish Patients diagnosed with rare ophtalmogenetic disorders: Macular Dystrophy, Retinitis Pigmentosa and Leber's congenital amaurosis.

  Study EGAS00001004084

• Whole exome sequencing of chemotherapy-resistant muscle-invasive urothelial bladder cancer

  Study EGAS00001004231

• Two monogenic disorders masquerading as one: Severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss

  Study EGAS00001004176

• High coverage sequencing of a single sample can account for the problem of intratumor heterogeneity

  Study EGAS00001004200

• Circulating tumor cells for comprehensive and multiregional non-invasive genetic characterization of multiple myeloma

  Study EGAS00001004288

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

  Study EGAS00001005820

• Whole Exome sequencing data from Shwachman-Diamond syndrome bone marrow samples

  Study EGAS00001004880

• 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

• JEM 20211004R

  Study EGAS00001005764

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

  Study EGAS00001005848

• TLR7 variants in human lupus patients

  Study EGAS00001005965

• Exome sequencing in CLL re-treated with venetoclax

  Study EGAS00001006158

• Genomics characterization of BRAF-V600E colorectal cancer patients treated with anti-BRAF/EGFR

  Study EGAS00001006247

• A clinically annotated post-mortem approach to study multi-organ somatic mutational clonality in normal tissues

  Study EGAS00001006332

• Case Report: early contribution of germline and nevi genetic alterations to a rapidly-progressing Cutaneous Melanoma Patient

  Study EGAS00001006459

• Targeted Sequencing Xenturion

  Study EGAS00001006697

• Mechanism of action and resistance to Trastuzumab Deruxtecan in patients with metastatic breast cancer: the DAISY trial

  Study EGAS00001006905

• Germline variants in childhood cutaneous melanoma

  Study EGAS00001006995