Publications by authors named "Melanie Leffler"

8Publications

Pre-genetics clinic resource evaluation for adults with intellectual disability: The pre-genetics clinic aid.

J Genet Couns 2020 Aug 4;29(4):668-677. Epub 2020 Apr 4.

Genetics of Learning Disability, Waratah, Hunter New England, Sydney, NSW, Australia.

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http://dx.doi.org/10.1002/jgc4.1259DOI Listing
August 2020

Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R.

Eur J Med Genet 2016 Apr 12;59(4):257-62. Epub 2015 Dec 12.

Genetics of Learning Disability Service, Hunter Genetics, Waratah, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.12.002DOI Listing
April 2016

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.

Am J Hum Genet 2015 Aug 9;97(2):302-10. Epub 2015 Jul 9.

School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia; School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.05.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573269PMC
August 2015

The MS4A family: counting past 1, 2 and 3.

Immunol Cell Biol 2016 Jan 3;94(1):11-23. Epub 2015 Apr 3.

Department of Biochemistry, La Trobe Institute for Molecular Science, La Trobe University, Bundoora, Victoria, Australia.

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http://doi.wiley.com/10.1038/icb.2015.48
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http://dx.doi.org/10.1038/icb.2015.48DOI Listing
January 2016