15 results on '"Tommerup, Niels"'
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2. Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes
3. Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients
4. Clonal hematopoiesis and COVID-19 hospitalization in Danish adults
5. Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?
6. Acute and persistent symptoms in non-hospitalized PCR-confirmed COVID-19 patients
7. Disruption in SLCO5A1 gene by a balanced chromosomal translocation t(1;8)(p32.2;q13). Another evidence of the need for combined haploinsufficiency of genes SLCO5A1 and SULF1 genes as a cause of mesomelia-synostosis syndrome. Clinical and cytogenetic considerations.
8. 13. Remember breakpoint two: Enhancer swapping, a frequent deleterious consequence of balanced chromosomal rearrangements
9. 12. The landscape of structural variation discovery and interpretation across global populations and the developmental continuum
10. 11. Structural variation discovery and interpretation in the era of cytogenomics
11. Rare pathogenic variants in genes of glutamatergic neurotransmission pathway segregate with schizophrenia in Pakistani families
12. Does rapid sequence divergence preclude RNA structure conservation in vertebrates?
13. Does rapid sequence divergence preclude RNA structure conservation in vertebrates?
14. Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families
15. Clonal hematopoiesis and COVID-19 hospitalization in Danish adults.
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