Lauren Akesson - Dissemin

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All papers authored by Lauren Akesson

This paper is made freely available by the publisher.

2022 Lauren S. Akesson

ORCID

ORCID

, Natasha J. Brown

ORCID

, Jeremy Rosenbaum, Sarah Donoghue, Michael Stormon

ORCID

, Charmaine Chai, Esmeralda Bordador, Yiran Guo

ORCID

, Hakon Hakonarson

ORCID

, Alison G. Compton

ORCID

, David R. Thorburn

ORCID

, Sumudu Amarasekera

ORCID

, Justine Marum, Alisha Monaco and 5 other authors

Distinct diagnostic trajectories in NBAS ‐associated acute liver failure highlights the need for timely functional studies

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This paper was not found in any repository, but could be made available legally by the author.

2020 Lauren S. Akesson

ORCID

, Adam Bournazos

ORCID

, Andrew Fennell, Emma I. Krzesinski, Kenneth Tan, Amanda Springer, Katherine Rose, Ilias Goranitis, David Francis, Crystle Lee, Fathimath Faiz, Mark R. Davis, John Christodoulou, Sebastian Lunke, Zornitza Stark

ORCID

and 2 other authors

Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate

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This paper was not found in any repository, but could be made available legally by the author.

Lauren S. Akesson

ORCID

, David Francis, Michelle de Silva

ORCID

, Theresa Cole, Peter Simm, Mark Oliver, Susan M. White

Microarray diagnosis of autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy caused by a novel homozygous intragenic AIRE deletion

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