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European Journal of Neurology
|
June 16, 2025
Societal Costs, Healthcare Utilisation and Labour Market Affiliation of Persons With Adult-Onset Myotonic Dystrophy Type 1 (DM1)-A Register-Based Study II
Charlotte Handberg, Jan Håkon Rudolfsen, Henning Andersen, et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 20, 2025
Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon
Ming Yin Lun, Jennifer E Posey, Jesse D Bengtsson, et al.
American Journal of Medical Genetics. Part A
|
April 7, 2026
De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection Pipeline
Katherine Helle, Jesse D Bengtsson, Mira Gandhi, et al.
Endocrine
|
September 25, 2018
Tumoral MGMT content predicts survival in patients with aggressive pituitary tumors and pituitary carcinomas given treatment with temozolomide
D Bengtsson, H D Schrøder, K Berinder, et al.
Human Molecular Genetics
|
September 15, 2024
Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels
Sameer S Bajikar, Yehezkel Sztainberg, Alexander J Trostle, et al.
Genome Medicine
|
December 31, 2025
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families
Haowei Du, Ming Yin Lun, Lidiia Gagarina, et al.
Genome Research
|
November 1, 2024
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps
Kristine Bilgrav Saether, Jesper Eisfeldt, Jesse D Bengtsson, et al.
Biorxiv : the Preprint Server for Biology
|
October 24, 2023
Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures
Christopher M Grochowski, Jesse D Bengtsson, Haowei Du, et al.
Cell Genomics
|
June 22, 2024
Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci
Christopher M Grochowski, Jesse D Bengtsson, Haowei Du, et al.
Genome Medicine
|
December 19, 2024
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
Davut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar, et al.
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Search research articles
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Showing results (11-20 of 21) with videos related to
Sort By:
Page
of 3
European Journal of Neurology
|
June 16, 2025
Societal Costs, Healthcare Utilisation and Labour Market Affiliation of Persons With Adult-Onset Myotonic Dystrophy Type 1 (DM1)-A Register-Based Study II
Charlotte Handberg, Jan Håkon Rudolfsen, Henning Andersen, et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 20, 2025
Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon
Ming Yin Lun, Jennifer E Posey, Jesse D Bengtsson, et al.
American Journal of Medical Genetics. Part A
|
April 7, 2026
De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection Pipeline
Katherine Helle, Jesse D Bengtsson, Mira Gandhi, et al.
Endocrine
|
September 25, 2018
Tumoral MGMT content predicts survival in patients with aggressive pituitary tumors and pituitary carcinomas given treatment with temozolomide
D Bengtsson, H D Schrøder, K Berinder, et al.
Human Molecular Genetics
|
September 15, 2024
Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels
Sameer S Bajikar, Yehezkel Sztainberg, Alexander J Trostle, et al.
Genome Medicine
|
December 31, 2025
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families
Haowei Du, Ming Yin Lun, Lidiia Gagarina, et al.
Genome Research
|
November 1, 2024
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps
Kristine Bilgrav Saether, Jesper Eisfeldt, Jesse D Bengtsson, et al.
Biorxiv : the Preprint Server for Biology
|
October 24, 2023
Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures
Christopher M Grochowski, Jesse D Bengtsson, Haowei Du, et al.
Cell Genomics
|
June 22, 2024
Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci
Christopher M Grochowski, Jesse D Bengtsson, Haowei Du, et al.
Genome Medicine
|
December 19, 2024
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
Davut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar, et al.
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