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Jesper Eisfeldt

Showing results (51-60 of 68) with videos related to

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NPJ Precision Oncology|February 26, 2026
Novel activating SNRNP70-ALK fusion in congenital infant-type hemispheric glioma displays clinical response to lorlatinib: a case-reportCecilia Arthur, Kleopatra Georgantzi, Teresita Díaz de Ståhl, et al.
Frontiers in Genetics|July 10, 2023
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndromeAlexandra Garza Flores, Ida Nordgren, Maria Pettersson, et al.
Genetics in Medicine Open|December 13, 2024
A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangementsJakob Schuy, Kristine Bilgrav Sæther, Jasmin Lisfeld, et al.
Human Mutation|September 9, 2020
Cytogenetically visible inversions are formed by multiple molecular mechanismsMaria Pettersson, Christopher M Grochowski, Josephine Wincent, et al.
The Journal of Allergy and Clinical Immunology|October 18, 2020
Chromatin interactions in differentiating keratinocytes reveal novel atopic dermatitis- and psoriasis-associated genesPelin Sahlén, Rapolas Spalinskas, Samina Asad, et al.
Frontiers in Oncology|September 4, 2023
Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemiaFatemah Rezayee, Jesper Eisfeldt, Aron Skaftason, et al.
Medrxiv : the Preprint Server for Health Sciences|May 7, 2024
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversionsKristine Bilgrav Saether, Jesper Eisfeldt, Jesse Bengtsson, et al.
Plos Genetics|November 13, 2018
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterizationLusine Nazaryan-Petersen, Jesper Eisfeldt, Maria Pettersson, et al.
Genome Research|November 1, 2024
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gapsKristine Bilgrav Saether, Jesper Eisfeldt, Jesse D Bengtsson, et al.
European Journal of Human Genetics : EJHG|August 24, 2017
SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish populationAdam Ameur, Johan Dahlberg, Pall Olason, et al.
Pageof 7

Showing results (51-60 of 68) with videos related to

Sort By:
Pageof 7
NPJ Precision Oncology|February 26, 2026
Novel activating SNRNP70-ALK fusion in congenital infant-type hemispheric glioma displays clinical response to lorlatinib: a case-reportCecilia Arthur, Kleopatra Georgantzi, Teresita Díaz de Ståhl, et al.
Frontiers in Genetics|July 10, 2023
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndromeAlexandra Garza Flores, Ida Nordgren, Maria Pettersson, et al.
Genetics in Medicine Open|December 13, 2024
A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangementsJakob Schuy, Kristine Bilgrav Sæther, Jasmin Lisfeld, et al.
Human Mutation|September 9, 2020
Cytogenetically visible inversions are formed by multiple molecular mechanismsMaria Pettersson, Christopher M Grochowski, Josephine Wincent, et al.
The Journal of Allergy and Clinical Immunology|October 18, 2020
Chromatin interactions in differentiating keratinocytes reveal novel atopic dermatitis- and psoriasis-associated genesPelin Sahlén, Rapolas Spalinskas, Samina Asad, et al.
Frontiers in Oncology|September 4, 2023
Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemiaFatemah Rezayee, Jesper Eisfeldt, Aron Skaftason, et al.
Medrxiv : the Preprint Server for Health Sciences|May 7, 2024
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversionsKristine Bilgrav Saether, Jesper Eisfeldt, Jesse Bengtsson, et al.
Plos Genetics|November 13, 2018
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterizationLusine Nazaryan-Petersen, Jesper Eisfeldt, Maria Pettersson, et al.
Genome Research|November 1, 2024
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gapsKristine Bilgrav Saether, Jesper Eisfeldt, Jesse D Bengtsson, et al.
European Journal of Human Genetics : EJHG|August 24, 2017
SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish populationAdam Ameur, Johan Dahlberg, Pall Olason, et al.
Pageof 7