Kati J Buckingham

Kati J Buckingham

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Kati J Buckingham

Kati J Buckingham

Publications by authors named "Kati J Buckingham"

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Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.

Am J Med Genet A 2017 Nov 29;173(11):2906-2911. Epub 2017 Aug 29.

Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.

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http://doi.wiley.com/10.1002/ajmg.a.38412
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http://dx.doi.org/10.1002/ajmg.a.38412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5650519PMC
November 2017

Speech and language in a genotyped cohort of individuals with Kabuki syndrome.

Am J Med Genet A 2015 Jul 8;167(7):1483-92. Epub 2015 Mar 8.

Department of Paediatrics, University of Melbourne, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37026DOI Listing
July 2015

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Am J Hum Genet 2015 May;96(5):841-9

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570285PMC
May 2015

Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats.

Mamm Genome 2013 Oct 15;24(9-10):400-8. Epub 2013 Aug 15.

Department of Pediatrics, University of Washington School of Medicine, 1959 NE Pacific Street, HSB RR349, Box 356320, Seattle, WA, 98195, USA,

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http://dx.doi.org/10.1007/s00335-013-9471-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848309PMC
October 2013