Human Mutation container_2vzjuzyygveinhd4ab2ux34qv4

Wiley (John Wiley & Sons)

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PatientMatcher: a customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network

Chiara Rasi, Daniel Nilsson, Måns Magnusson, Nicole Lesko, Kristina Lagerstedt‐Robinson, Anna Wedell, Lindstrand A, Valtteri Wirta, Henrik Stranneheim
2022 | Human Mutation
doi:10.1002/humu.24358   pmcid:PMC9311682  

Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher

Meghan Towne, Mari Rossi, Bess Wayburn, Jennifer M. Huang, Kelly Radtke, Wendy Alcaraz, Kelly D. Farwell Hagman, Deepali N. Shinde
2022 | Human Mutation
doi:10.1002/humu.24342   pmcid:PMC9313781  

Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene

Ralph Mazijk, Annechien Haarman, Lies H. Hoefsloot, Jan Roelof Polling, Marianne Tienhoven, Caroline C.W. Klaver, Virginie J.M. Verhoeven, Sjoukje E. Loudon, Alberta A.H.J. Thiadens, Anneke J.A. Kievit
2022 | Human Mutation
doi:10.1002/humu.24327   pmcid:PMC9303208  
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Preservation Summary [more]
1,452 preserved and accessble (bright)
5,954 preserved, inaccessible (dark)
0 no known preservation
Release Types
article-journal 7,402
letter 3
unknown-type 1
ISSN-L?  1059-7794
    Print:  1059-7794
    Electronic:  1098-1004
Wikidata  Q5937269
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