نتائج البحث

Genomic alterations associated with resistance and circulating tumor DNA dynamics for early detection of progression on CDK4/6 inhibitor in advanced breast cancer

• Authors : Kindt, Charlotte K; Alves, Carla Maria Lourenco; Ehmsen, Sidse

Subjects: CDK4/6 inhibitor; ctDNA; estrogen receptor-positive breast cancer

• Source: Kindt , C K , Alves , C M L , Ehmsen , S , Kragh , A , Reinert , T , Vogsen , M , Kodahl , A R , Rønlev , J D , Ardik , D , Sørensen , A L , Evald , K , Clemmensen , M L , Staaf , J & Ditzel , H J

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CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations.

• Authors : Royer-Bertrand, B.; Cisarova, K.; Niel-Butschi, F.

Subjects: Adolescent; Adult; Aged

• Source: Genes, vol. 12, no. 9, pp. 1427

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High-throughput sequencing identifies 3 novel susceptibility genes for hereditary melanoma

• Authors : Campos, C; Fragoso, S; Luís, R ...

Subjects: Adult; Aged; Cadherin Related Proteins

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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.

• Authors : Papuc, S.M.; Abela, L.; Steindl, K.

Subjects: Adolescent; Adult; Child

• Source: European journal of human genetics, vol. 27, no. 3, pp. 408-421

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Human genetic variation in GLS2 is associated with development of complicated Staphylococcus aureus bacteremia

• Authors : Scott, William K.; Medie, Felix Mba; Ruffin, Felicia

Subjects: Adolescent; Adult; Aged

• Source: Scott , W K , Medie , F M , Ruffin , F , Sharma-Kuinkel , B K , Cyr , D D , Guo , S , Dykxhoorn , D M , Skov , R L , Bruun , N E , Dahl , A , Lerche , C J , Petersen , A , Larsen , A R , Lauridsen , T

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Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

• Authors : Johnson, Katherine; Bertoli, Marta; Phillips, Lauren

Subjects: Adolescent; Adult; Aged

• Source: Johnson , K , Bertoli , M , Phillips , L , Töpf , A , Van den Bergh , P , Vissing , J , Witting , N , Nafissi , S , Jamal-Omidi , S , Łusakowska , A , Kostera-Pruszczyk , A , Potulska-Chromik , A ,

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Genomic alterations accompanying tumour evolution in colorectal cancer:tracking the differences between primary tumours and synchronous liver metastases by whole-exome sequencing

• Authors : Mogensen, M B; Rossing, M; Østrup, O

Subjects: Adult; Aged; 80 and over

• Source: Mogensen , M B , Rossing , M , Østrup , O , Larsen , P N , Heiberg Engel , P J , Jørgensen , L N , Hogdall , E V , Eriksen , J , Ibsen , P , Jess , P , Grauslund , M , Nielsen , H J , Nielsen , F C

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