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「"Kilpivaara O "[Author]」の検索結果

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Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up.

Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival.

Mathematical modeling reveals alternative JAK inhibitor treatment in myeloproliferative neoplasms.

ERCC6L2 defines a novel entity within inherited acute myeloid leukemia.

Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans.

Contribution of allelic imbalance to colorectal cancer.

Characterization of an X-chromosome-linked telomere biology disorder in females with DKC1 mutation.

Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer.

Germline alterations in a consecutive series of acute myeloid leukemia.

Detection of subclonal L1 transductions in colorectal cancer by long-distance inverse-PCR and Nanopore sequencing.

Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera.

CTCF/cohesin-binding sites are frequently mutated in cancer.

Systematic search for rare variants in Finnish early-onset colorectal cancer patients.

Identification of homozygous deletion in ACAN and other candidate variants in familial classical Hodgkin lymphoma by exome sequencing.

Integrated genomic analysis illustrates the central role of JAK-STAT pathway activation in myeloproliferative neoplasm pathogenesis.

Frequent L1 retrotranspositions originating from TTC28 in colorectal cancer.

Exome sequencing reveals frequent inactivating mutations in ARID1A,ARID1B,ARID2, and ARID4A in microsatellite unstable colorectal cancer.

Eleven candidate susceptibility genes for common familial colorectal cancer.

MYBL2 is a sub-haploinsufficient tumor suppressor gene in myeloid malignancy.

Molecular analysis of patients with polycythemia vera or essential thrombocythemia receiving pegylated interferon alpha-2a.

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