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1. A framework for the clinical implementation of optical genome mapping in hematologic malignancies

2. A complex structural variant near SOX3 causes X-linked split-hand/foot malformation.

3. Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition

4. Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility

5. Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility.

6. Optical genome mapping as an alternative to FISH-based cytogenetic assessment in chronic lymphocytic leukemia

7. A complex structural variant near SOX3 causes X-linked split-hand/foot malformation

8. Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility

9. New insights into the genetic etiology of Alzheimer's disease and related dementias

12. Uudet long-read-teknologiat:kohti tarkennettua genomitietoa perinnöllisistä sairauksista ja syövistä

13. Optical genome mapping:a promising new tool to assess genomic complexity in chronic lymphocytic leukemia (CLL)

16. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

17. Mimicking Behçet's disease: GM-CSF gain of function mutation in a family suffering from a Behçet's disease-like disorder marked by extreme pathergy

18. Long-read technologies identify a hidden inverted duplication in a family with choroideremia

19. Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

20. Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors

23. Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition

24. Presence of Genetic Variants Among Young Men With Severe COVID-19

25. Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition

27. Genetic architecture of human plasma lipidome and its link to cardiovascular disease

28. Long-Read Sequencing Emerging in Medical Genetics

29. Genetic architecture of human plasma lipidome and its link to cardiovascular disease

30. Long-read sequencing emerging in medical genetics

31. Tumor suppressor MCPH1 regulates gene expression profiles related to malignant conversion and chromosomal assembly

32. Rare missense mutations in RECQL and POLG associate with inherited predisposition to breast cancer

33. DNA damage response gene mutations and inherited susceptibility to breast cancer

38. DNA damage response gene mutations and inherited susceptibility to breast cancer

39. FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish population

40. Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer

49. Population-based study of recurrent DNA damage response gene variants in breast cancer cases.

50. Structural Variant Analysis of Complex Karyotype Myelodysplastic Neoplasia Through Optical Genome Mapping.

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