1,468 results on '"Tommerup, Niels"'
Search Results
2. PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES)
3. Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes
4. Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients
5. A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review
6. Clonal hematopoiesis and COVID-19 hospitalization in Danish adults
7. Acute and persistent symptoms in non-hospitalized PCR-confirmed COVID-19 patients
8. Haploinsufficiency of ARHGAP42 is associated with hypertension
9. Congenital olfactory impairment is linked to cortical changes in prefrontal and limbic brain regions
10. RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis
11. A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family
12. A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome
13. De novo unbalanced translocations have a complex history/aetiology
14. Regulatory variants of FOXG1 in the context of its topological domain organisation
15. Loss of the Retinoblastoma Protein-Related p130 Protein in Small Cell Lung Carcinoma
16. Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family
17. 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.
18. Neural correlates of taste perception in congenital olfactory impairment
19. Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement
20. Inherited Mental Retardation Syndromes
21. Phenotypic subregions within the split-hand/foot malformation 1 locus
22. 13. Remember breakpoint two: Enhancer swapping, a frequent deleterious consequence of balanced chromosomal rearrangements
23. 12. The landscape of structural variation discovery and interpretation across global populations and the developmental continuum
24. 11. Structural variation discovery and interpretation in the era of cytogenomics
25. Rare pathogenic variants in genes of glutamatergic neurotransmission pathway segregate with schizophrenia in Pakistani families
26. Does rapid sequence divergence preclude RNA structure conservation in vertebrates?
27. Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis
28. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies
29. Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development
30. Does rapid sequence divergence preclude RNA structure conservation in vertebrates?
31. Single-molecule denaturation mapping of DNA in nanofluidic channels
32. A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family
33. Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation
34. Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families
35. Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination
36. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation
37. The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome
38. Chemoattraction in Tetrahymena: On the Role of Chemokinesis
39. Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia
40. Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis—Convergence on axonal guidance
41. Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families
42. Article rare pathogenic variants in genes implicated in glutamatergic neurotransmission pathway segregate with schizophrenia in pakistani families
43. A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family:Clinical report and mini review
44. Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel
45. A Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1
46. Haploinsufficiency of TAB2 causes congenital heart defects in humans
47. JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells
48. Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes
49. Sequence analysis of 17 NRXN1 deletions
50. 51. Remember breakpoint two. Enhancer swapping, a frequent deleterious consequence of balanced chromosomal rearrangements
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.