Showing 1 - 20 results of 27 for search 'Anna Lindstrand', query time: 0.06s Refine Results
  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 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

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

    Published 2023-07-01
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  3. 3
    AMYCNE: Confident copy number assessment using whole genome sequencing data.

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

    Published 2018-01-01
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  4. 4
    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 by Karl De Geer, Katarzyna Mascianica, Karin Naess, Eliane Sardh, Anna Lindstrand, Erik Björck

    Published 2023-09-01
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  5. 5
    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 by Jesper Eisfeldt, Jakob Schuy, Eva-Lena Stattin, Malin Kvarnung, Anna Falk, Lars Feuk, Anna Lindstrand

    Published 2022-08-01
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  6. 6
    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 by 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

    Published 2022-02-01
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  7. 7
    Loqusdb: added value of an observations database of local genomic variation

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

    Published 2020-07-01
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  8. 8
    The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders

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

    Published 2023-04-01
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  9. 9
    Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.

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

    Published 2020-01-01
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  10. 10
    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 by Esmee ten Berk de Boer, Adam Ameur, Ignas Bunikis, Marlene Ek, Eva-Lena Stattin, Lars Feuk, Jesper Eisfeldt, Anna Lindstrand

    Published 2024-04-01
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  11. 11
    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 by 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

    Published 2019-06-01
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  12. 12
    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 by Raquel Vaz, Josephine Wincent, Najla Elfissi, Kristina Rosengren Forsblad, Maria Pettersson, Karin Naess, Anna Wedell, Anna Wredenberg, Anna Lindstrand, Sofia Ygberg

    Published 2022-12-01
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  13. 13
    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 by Sofia Frisk, Alexandra Wachtmeister, Tobias Laurell, Anna Lindstrand, Nina Jäntti, Helena Malmgren, Kristina Lagerstedt‐Robinson, Bianca Tesi, Fulya Taylan, Ann Nordgren

    Published 2022-04-01
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  14. 14
    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 by 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

    Published 2021-08-01
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  15. 15
    Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.

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

    Published 2019-02-01
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  16. 16
    High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing.

    High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing. by Anh Nhi Tran, Fulya Taylan, Vasilios Zachariadis, Ingegerd Ivanov Öfverholm, Anna Lindstrand, Francesco Vezzi, Britta Lötstedt, Magnus Nordenskjöld, Ann Nordgren, Daniel Nilsson, Gisela Barbany

    Published 2018-01-01
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  17. 17
    Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene

    Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene by Johanna Lundin, Ellen Markljung, Izabella Baranowska Körberg, Wolfgang Hofmeister, Jia Cao, Daniel Nilsson, Gundela Holmdahl, Gillian Barker, Magnus Anderberg, Vladana Vukojević, Anna Lindstrand, Agneta Nordenskjöld

    Published 2019-06-01
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  18. 18
    Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome

    Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome by Alexandra Garza Flores, Alexandra Garza Flores, Ida Nordgren, Maria Pettersson, Maria Pettersson, Dora Dias-Santagata, Daniel Nilsson, Daniel Nilsson, Anna Hammarsjö, Anna Hammarsjö, Anna Lindstrand, Anna Lindstrand, Dominyka Batkovskyte, Janey Wiggs, David S. Walton, Paula Goldenberg, Jesper Eisfeldt, Jesper Eisfeldt, Angela E. Lin, Ralph S. Lachman, Ralph S. Lachman, Ralph S. Lachman, Gen Nishimura, Gen Nishimura, Giedre Grigelioniene, Giedre Grigelioniene, Giedre Grigelioniene

    Published 2023-06-01
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  19. 19
    Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186

    Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186 by Malin Kvarnung, Malin Kvarnung, Mansoureh Shahsavani, Mansoureh Shahsavani, Fulya Taylan, Mohsen Moslem, Nicole Breeuwsma, Loora Laan, Jens Schuster, Zhe Jin, Daniel Nilsson, Daniel Nilsson, Agne Lieden, Agne Lieden, Britt-Marie Anderlid, Britt-Marie Anderlid, Magnus Nordenskjöld, Magnus Nordenskjöld, Elisabeth Syk Lundberg, Elisabeth Syk Lundberg, Bryndis Birnir, Niklas Dahl, Ann Nordgren, Ann Nordgren, Anna Lindstrand, Anna Lindstrand, Anna Falk

    Published 2019-09-01
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  20. 20
    Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report

    Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report by Andrea Bieder, Elisabet Einarsdottir, Hans Matsson, Harriet E. Nilsson, Jesper Eisfeldt, Anca Dragomir, Martin Paucar, Tobias Granberg, Tie-Qiang Li, Anna Lindstrand, Juha Kere, Isabel Tapia-Páez

    Published 2020-05-01
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