SLNSW-Sequential targeted exome sequencing of 1001 pati...-TN_cdi_proquest_journals_2474992329

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Full title: Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Author/creator: MYO-SEQ consortium, Töpf, Ana, Johnson, Katherine, Bates, Adam, Phillips, Lauren, Chao, Katherine R, England, Eleina M, Laricchia, Kristen M, Mullen, Thomas, Valkanas, Elise, Xu, Liwen, Bertoli, Marta, Blain, Alison, Casasús, Ana B, Duff, Jennifer, Mroczek, Magdalena, Specht, Sabine, Lek, Monkol, Ensini, Monica, MacArthur, Daniel G, Straub, Volker.

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Record Identifier: TN_cdi_proquest_journals_2474992329

Language: English

Formats: Articles

Publishers: United States: Elsevier Limited

Permalink: https://collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2474992329

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    Record title

    Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

    Record identifier

    TN_cdi_proquest_journals_2474992329

    Record permalink

    https://collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2474992329

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    Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

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    https://collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2474992329

    Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

    Full title

    Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

    Author / Creator

    MYO-SEQ consortium ; Töpf, Ana ; Johnson, Katherine ; Bates, Adam ; Phillips, Lauren ; Chao, Katherine R ; England, Eleina M ; Laricchia, Kristen M ; Mullen, Thomas ; Valkanas, Elise ; Xu, Liwen ; Bertoli, Marta ; Blain, Alison ; Casasús, Ana B ; Duff, Jennifer ; Mroczek, Magdalena ; Specht, Sabine ; Lek, Monkol ; Ensini, Monica ; MacArthur, Daniel G ; Straub, Volker

    Publisher

    United States: Elsevier Limited

    Journal title

    Genetics in medicine, 2020, Vol.22 (9), p.1478-1488

    Record Identifier

    TN_cdi_proquest_journals_2474992329

    Language

    English

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    Articles

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    Anoctamins Disease Exome - genetics Genes Genetic counseling genetic diagnosis Genetics Genomics Glucosyltransferases Humans limb-girdle weakness Muscular Dystrophies, Limb-Girdle - genetics Muscular dystrophy neuromuscular disease Neuromuscular diseases next-generation sequencing Patients targeted exome analysis Whole Exome Sequencing

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    TN_cdi_proquest_journals_2474992329

    Permalink

    https://collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2474992329

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