نتائج البحث

A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients

• Authors : Wendt, Camilla; Muranen, Taru A; Mielikäinen, Lotta

Subjects: Breast Neoplasms/genetics; Case-Control Studies; Checkpoint Kinase 2/genetics

• Source: Scientific Reports. 11:1-9

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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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Využití metod celoexomového sekvenování pro studium vzácných dědičně podmíněných chorob ; Application of whole-exome sequencing methods for the study of rare inherited diseases

• Authors : Piherová, Lenka;

Subjects: vzácná onemocnění; sekvenování nové generace; Fanconiho syndrom

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Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluation

• Authors : McDermott, H.; Sherlaw-Sturrock, C.; Baptista, J.

Subjects: Child; Critical Illness; Exome/genetics

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Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders

• Authors : Klau, Julia; Abou Jamra, Rami; Radtke, Maximilian

Subjects: Adolescent [MeSH]; Neurodevelopmental disorders; Humans [MeSH]

• Source: http://lobid.org/resources/99370671030206441#!, 30(1):117-125.

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Solving unsolved rare neurological diseases—a Solve-RD viewpoint

• Authors : Timmann, Dagmar; Erasmus, Corrie E.; Reichbauer, Jennifer

Subjects: Neurodevelopmental disorders; Genomics/standards [MeSH]; Datasets as Topic [MeSH]

• Source: http://lobid.org/resources/99370671030206441#!, 29(9):1332-1336.

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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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Combined Use of Whole Exome Sequencing and CRISPR/Cas9 to Study the Etiology of Non-Obstructive Azoospermia: Demonstration of the Dispensable Role of the Testis-Specific Genes C1orf185 and CCT6B

• Authors : Cazin, Caroline; Neirijnck, Yasmine; Loeuillet, Corinne

Subjects: info:eu-repo/classification/ddc/576.5; C1orf185; CCT6B

• Source: ISSN: 2073-4409 ; Cells, vol. 11, no. 1 (2021) 118.

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Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy.

• Authors : Wolking, Stefan; Moreau, Claudia; McCormack, Mark

Subjects: Sciences bio-médicales et agricoles; Cohort Studies; Drug Resistant Epilepsy -- diagnosis -- genetics

• Source: Annals of clinical and translational neurology, 8 (7

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Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

• Authors : Epi25 Collaborative. Electronic address: ; Depondt, Chantal

Subjects: Neurologie; Case-Control Studies; Cohort Studies

• Source: American journal of human genetics, 108 (6

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