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Anna Lindstrand

Showing results (91-100 of 127) with videos related to

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American Journal of Human Genetics|April 22, 2014
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndromeAnna Lindstrand, Erica E Davis, Claudia M B Carvalho, et al.
Human Mutation|November 19, 2016
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of FormationDaniel Nilsson, Maria Pettersson, Peter Gustavsson, 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.
Journal of Medical Genetics|November 9, 2013
Different mutations in PDE4D associated with developmental disorders with mirror phenotypesAnna Lindstrand, Giedre Grigelioniene, Daniel Nilsson, et al.
Journal of Internal Medicine|May 8, 2023
A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologiesMaribel Aranda-Guillén, Ellen Christine Røyrvik, Sara Fletcher-Sandersjöö, et al.
Nature Medicine|February 27, 2019
Gain-of-function mutation of microRNA-140 in human skeletal dysplasiaGiedre Grigelioniene, Hiroshi I Suzuki, Fulya Taylan, 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 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 familiesHaowei Du, Ming Yin Lun, Lidiia Gagarina, et al.
Biological Psychiatry|May 5, 2018
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNPAnke Van Dijck, Anneke T Vulto-van Silfhout, Elisa Cappuyns, 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.
Pageof 13

Showing results (91-100 of 127) with videos related to

Sort By:
Pageof 13
American Journal of Human Genetics|April 22, 2014
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndromeAnna Lindstrand, Erica E Davis, Claudia M B Carvalho, et al.
Human Mutation|November 19, 2016
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of FormationDaniel Nilsson, Maria Pettersson, Peter Gustavsson, 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.
Journal of Medical Genetics|November 9, 2013
Different mutations in PDE4D associated with developmental disorders with mirror phenotypesAnna Lindstrand, Giedre Grigelioniene, Daniel Nilsson, et al.
Journal of Internal Medicine|May 8, 2023
A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologiesMaribel Aranda-Guillén, Ellen Christine Røyrvik, Sara Fletcher-Sandersjöö, et al.
Nature Medicine|February 27, 2019
Gain-of-function mutation of microRNA-140 in human skeletal dysplasiaGiedre Grigelioniene, Hiroshi I Suzuki, Fulya Taylan, 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 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 familiesHaowei Du, Ming Yin Lun, Lidiia Gagarina, et al.
Biological Psychiatry|May 5, 2018
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNPAnke Van Dijck, Anneke T Vulto-van Silfhout, Elisa Cappuyns, 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.
Pageof 13