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Your search keyword '"Glashoff, Richard H"' showing total 4 results
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4 results on '"Glashoff, Richard H"'

1. Additional file 3 of Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report

Author

Glanzmann, Brigitte, Möller, Marlo, Mardelle Schoeman, Urban, Michael, Helden, Paul D. Van, Frigati, Lisa, Ravnit Grewal, Pieters, Hermanus, Loos, Ben, Hoal, Eileen G., Glashoff, Richard H., Cornelissen, Helena, Rabie, Helena, Esser, Monika M., and Kinnear, Craig J.

Abstract

Additional file 3: Table S2. Shortlist of three candidate variants identified as plausible disease-causing variants.

Published
2020
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2. Additional file 4 of Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report

Author

Glanzmann, Brigitte, Möller, Marlo, Mardelle Schoeman, Urban, Michael, Helden, Paul D. Van, Frigati, Lisa, Ravnit Grewal, Pieters, Hermanus, Loos, Ben, Hoal, Eileen G., Glashoff, Richard H., Cornelissen, Helena, Rabie, Helena, Esser, Monika M., and Kinnear, Craig J.

Abstract

Additional file 4: Table S3. Details of the candidate variant narrowed down using consecutive filters based on an autosomal recessive model of inheritance and low frequency.

Published
2020
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3. Additional file 2 of Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report

Author

Glanzmann, Brigitte, Möller, Marlo, Mardelle Schoeman, Urban, Michael, Helden, Paul D. Van, Frigati, Lisa, Ravnit Grewal, Pieters, Hermanus, Loos, Ben, Hoal, Eileen G., Glashoff, Richard H., Cornelissen, Helena, Rabie, Helena, Esser, Monika M., and Kinnear, Craig J.

Abstract

Additional file 2: Table S1. Summary of exome sequencing data for the patient and his parents.

Published
2020
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4. Additional file 1 of Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report

Author

Glanzmann, Brigitte, Möller, Marlo, Mardelle Schoeman, Urban, Michael, Helden, Paul D. Van, Frigati, Lisa, Ravnit Grewal, Pieters, Hermanus, Loos, Ben, Hoal, Eileen G., Glashoff, Richard H., Cornelissen, Helena, Rabie, Helena, Esser, Monika M., and Kinnear, Craig J.

Subjects
Data_FILES, InformationSystems_MISCELLANEOUS
Abstract

Additional file 1: Figure S1. Timeline of symptoms presented by the index case.

Published
2020
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