about
An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element.Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development.Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horsesNovel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome SequencingBenchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.ATRX driver mutation in a composite malignant pheochromocytoma.Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families.A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.Heterozygous mutation causes familial ataxia with cognitive affective syndrome (SCA48)Deep analysis of acquired resistance to FGFR1 inhibitor identifies MET and AKT activation and an expansion of AKT1 mutant cellsA de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathyGenome-wide profiling of non-smoking-related lung cancer cells reveals common RB1 rearrangements associated with histopathologic transformation in EGFR-mutant tumorsChromosome 12p Amplification in Triple-Negative/BRCA1-Mutated Breast Cancer Associates with Emergence of Docetaxel Resistance and Carboplatin SensitivityDiagnostic value of bone marrow core biopsy patterns in lymphoplasmacytic lymphoma/Waldenström macroglobulinaemia and description of its mutational profiles by targeted NGS
P50
Q31131610-ECBFEB5E-6387-47A0-9336-56536DD7A8C9Q33551376-0EB2B763-0FC5-4903-8616-0931173D3680Q35091744-FAABFC90-3FFD-42B2-B119-9DA0501F098AQ35802055-DD185C36-AF6D-4631-AC60-B432D0CA12B9Q36231506-F44F121F-702E-4B61-93FB-E4E2B7767986Q37554531-CDE29798-31BA-4DD3-8B53-BDD210D1FB84Q39746547-9A2D3AC1-1B49-4FCC-A3C2-A46DF999C09FQ48172904-0882CF1A-B490-43AD-8186-54ACEA4DF6E7Q48539463-595CCEF7-358C-403D-A2EE-EE2757382340Q58090370-F9BD9B51-8A5C-4E74-B5C3-59FD73B698DDQ91116686-0C1C9555-0C43-40DC-9560-BE107C4736C5Q92342272-60C4ADCF-09CC-4302-AFCA-F1B5D73834AAQ92779377-013A49CA-BFC6-48CD-9E53-805EEFEE0CCBQ92859268-E3D39CDD-3E0A-4B37-BD08-4C37098471D4Q92931775-E3E4B507-6CBD-421D-99F2-099542FABFC8
P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Raul Tonda
@ast
Raul Tonda
@en
Raul Tonda
@es
Raul Tonda
@nl
type
label
Raul Tonda
@ast
Raul Tonda
@en
Raul Tonda
@es
Raul Tonda
@nl
prefLabel
Raul Tonda
@ast
Raul Tonda
@en
Raul Tonda
@es
Raul Tonda
@nl
P106
P21
P31
P496
0000-0001-7893-2404