Showing 1 - 20 results of 34 for search 'Anna Lindstrand', query time: 0.27s Refine Results
  1. 1
    Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome
    by Sofia Ygberg, Anna Lindstrand
    Published 2022-06-01
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  2. 2
    Loss of ctnnd2b affects neuronal differentiation and behavior in zebrafish
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  3. 3
    Zebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques
    by Raquel Vaz, Wolfgang Hofmeister, Anna Lindstrand
    Published 2019-03-01
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  4. 4
    AMYCNE: Confident copy number assessment using whole genome sequencing data.
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  5. 5
    TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data [version 2; referees: 2 approved]
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  6. 6
    Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report
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  7. 7
    Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility
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  8. 8
    Multi-Omic Investigations of a 17–19 Translocation Links <i>MINK1</i> Disruption to Autism, Epilepsy and Osteoporosis
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  9. 9
    Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
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  10. 10
    Targeted Exome Sequencing of Genes Involved in Rare CNVs in Early-Onset Severe Obesity
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  11. 11
    Loqusdb: added value of an observations database of local genomic variation
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  12. 12
    The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders
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  13. 13
    Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.
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  14. 14
    Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation
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  15. 15
    Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy
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  16. 16
    A Missense Variant in <i>PDK1</i> Associated with Severe Neurodevelopmental Delay and Epilepsy
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  17. 17
    Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants
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  18. 18
    Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland.
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  19. 19
    Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome
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  20. 20
    Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.
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