Hasil Pencarian - Anna Lindstrand

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  1. 1
    Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome

    Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome oleh Sofia Ygberg, Anna Lindstrand

    Diterbitkan 2022-06-01
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  2. 2
    Loss of ctnnd2b affects neuronal differentiation and behavior in zebrafish

    Loss of ctnnd2b affects neuronal differentiation and behavior in zebrafish oleh Raquel Vaz, Steven Edwards, Alfredo Dueñas-Rey, Wolfgang Hofmeister, Anna Lindstrand, Anna Lindstrand

    Diterbitkan 2023-07-01
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  3. 3
    Zebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques

    Zebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques oleh Raquel Vaz, Wolfgang Hofmeister, Anna Lindstrand

    Diterbitkan 2019-03-01
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  4. 4
    AMYCNE: Confident copy number assessment using whole genome sequencing data.

    AMYCNE: Confident copy number assessment using whole genome sequencing data. oleh Jesper Eisfeldt, Daniel Nilsson, Johanna C Andersson-Assarsson, Anna Lindstrand

    Diterbitkan 2018-01-01
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  5. 5
    TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data [version 2; referees: 2 approved]

    TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data [version 2; referees: 2 approved] oleh Jesper Eisfeldt, Francesco Vezzi, Pall Olason, Daniel Nilsson, Anna Lindstrand

    Diterbitkan 2017-06-01
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  6. 6
    Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report

    Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report oleh Karl De Geer, Katarzyna Mascianica, Karin Naess, Eliane Sardh, Anna Lindstrand, Erik Björck

    Diterbitkan 2023-09-01
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  7. 7
    Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility

    Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility oleh Alice Costantini, Sini Skarp, Sini Skarp, Anders Kämpe, Riikka E. Mäkitie, Maria Pettersson, Minna Männikkö, Minna Männikkö, Hong Jiao, Fulya Taylan, Anna Lindstrand, Anna Lindstrand, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie

    Diterbitkan 2018-07-01
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  8. 8
    Multi-Omic Investigations of a 17–19 Translocation Links <i>MINK1</i> Disruption to Autism, Epilepsy and Osteoporosis

    Multi-Omic Investigations of a 17–19 Translocation Links <i>MINK1</i> Disruption to Autism, Epilepsy and Osteoporosis oleh Jesper Eisfeldt, Jakob Schuy, Eva-Lena Stattin, Malin Kvarnung, Anna Falk, Lars Feuk, Anna Lindstrand

    Diterbitkan 2022-08-01
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  9. 9
    Targeted Exome Sequencing of Genes Involved in Rare CNVs in Early-Onset Severe Obesity

    Targeted Exome Sequencing of Genes Involved in Rare CNVs in Early-Onset Severe Obesity oleh Petra Loid, Petra Loid, Petra Loid, Minna Pekkinen, Minna Pekkinen, Minna Pekkinen, Taina Mustila, Päivi Tossavainen, Heli Viljakainen, Heli Viljakainen, Anna Lindstrand, Anna Lindstrand, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie

    Diterbitkan 2022-03-01
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  10. 10
    Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model

    Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model oleh Jakob Schuy, Jesper Eisfeldt, Jesper Eisfeldt, Jesper Eisfeldt, Maria Pettersson, Maria Pettersson, Niloofar Shahrokhshahi, Mohsen Moslem, Daniel Nilsson, Daniel Nilsson, Daniel Nilsson, Niklas Dahl, Mansoureh Shahsavani, Anna Falk, Anna Falk, Anna Lindstrand, Anna Lindstrand

    Diterbitkan 2022-02-01
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  11. 11
    Loqusdb: added value of an observations database of local genomic variation

    Loqusdb: added value of an observations database of local genomic variation oleh Måns Magnusson, Jesper Eisfeldt, Daniel Nilsson, Adam Rosenbaum, Valtteri Wirta, Anna Lindstrand, Anna Wedell, Henrik Stranneheim

    Diterbitkan 2020-07-01
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  12. 12
    The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders

    The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders oleh Hannes Runheim, Maria Pettersson, Anna Hammarsjö, Ann Nordgren, Martin Henriksson, Anna Lindstrand, Lars-Åke Levin, Maria Johansson Soller

    Diterbitkan 2023-04-01
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  13. 13
    Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.

    Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia. oleh Sara Dahl, Maria Pettersson, Jesper Eisfeldt, Anna Katharina Schröder, Ronny Wickström, Kristina Teär Fahnehjelm, Britt-Marie Anderlid, Anna Lindstrand

    Diterbitkan 2020-01-01
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  14. 14
    Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation

    Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation oleh Esmee ten Berk de Boer, Adam Ameur, Ignas Bunikis, Marlene Ek, Eva-Lena Stattin, Lars Feuk, Jesper Eisfeldt, Anna Lindstrand

    Diterbitkan 2024-04-01
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  15. 15
    Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy

    Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy oleh Artem Kiselev, Raquel Vaz, Anastasia Knyazeva, Alexey Sergushichev, Renata Dmitrieva, Aleksandr Khudiakov, John Jorholt, Natalia Smolina, Natalia Smolina, Ksenia Sukhareva, Yulia Fomicheva, Evgeny Mikhaylov, Lubov Mitrofanova, Alexander Predeus, Alexander Predeus, Gunnar Sjoberg, Dmitriy Rudenko, Thomas Sejersen, Anna Lindstrand, Anna Lindstrand, Anna Kostareva, Anna Kostareva

    Diterbitkan 2019-06-01
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  16. 16
    A Missense Variant in <i>PDK1</i> Associated with Severe Neurodevelopmental Delay and Epilepsy

    A Missense Variant in <i>PDK1</i> Associated with Severe Neurodevelopmental Delay and Epilepsy oleh Raquel Vaz, Josephine Wincent, Najla Elfissi, Kristina Rosengren Forsblad, Maria Pettersson, Karin Naess, Anna Wedell, Anna Wredenberg, Anna Lindstrand, Sofia Ygberg

    Diterbitkan 2022-12-01
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  17. 17
    Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland.

    Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland. oleh Heli Viljakainen, Johanna C Andersson-Assarsson, Miriam Armenio, Minna Pekkinen, Maria Pettersson, Helena Valta, Marita Lipsanen-Nyman, Outi Mäkitie, Anna Lindstrand

    Diterbitkan 2015-01-01
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  18. 18
    Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants

    Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants oleh Sofia Frisk, Alexandra Wachtmeister, Tobias Laurell, Anna Lindstrand, Nina Jäntti, Helena Malmgren, Kristina Lagerstedt‐Robinson, Bianca Tesi, Fulya Taylan, Ann Nordgren

    Diterbitkan 2022-04-01
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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

    Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome oleh Christopher M. Grochowski, Ana C. V. Krepischi, Jesper Eisfeldt, Jesper Eisfeldt, Haowei Du, Debora R. Bertola, Debora R. Bertola, Danyllo Oliveira, Silvia S. Costa, James R. Lupski, James R. Lupski, James R. Lupski, James R. Lupski, Anna Lindstrand, Anna Lindstrand, Claudia M. B. Carvalho, Claudia M. B. Carvalho

    Diterbitkan 2021-08-01
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  20. 20
    Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.

    Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements. oleh Jesper Eisfeldt, Maria Pettersson, Francesco Vezzi, Josephine Wincent, Max Käller, Joel Gruselius, Daniel Nilsson, Elisabeth Syk Lundberg, Claudia M B Carvalho, Anna Lindstrand

    Diterbitkan 2019-02-01
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