Keith K Vaux

Keith K Vaux

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Keith K Vaux

Keith K Vaux

Publications by authors named "Keith K Vaux"

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Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

Am J Med Genet A 2016 Apr 5;170A(4):992-8. Epub 2016 Jan 5.

Laboratory for Pediatric Brain Diseases, Howard Hughes Medical Institute, The Rockefeller University, New York City, New York.

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http://dx.doi.org/10.1002/ajmg.a.37533DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011457PMC
April 2016

Frequency and Complexity of De Novo Structural Mutation in Autism.

Am J Hum Genet 2016 Apr 24;98(4):667-79. Epub 2016 Mar 24.

Beyster Center for Genomics of Psychiatric Diseases, University of California, San Diego, La Jolla, CA 92093, USA; Department of Psychiatry, University of California, San Diego, La Jolla, CA 92093, USA; Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833290PMC
April 2016

The genetic landscape of autism spectrum disorders.

Dev Med Child Neurol 2014 Jan 1;56(1):12-8. Epub 2013 Oct 1.

Department of Neurosciences and Pediatrics, Howard Hughes Medical Institute, University of California, San Diego, CA, USA.

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http://dx.doi.org/10.1111/dmcn.12278DOI Listing
January 2014

Use of multiplanar 3-dimensional ultrasonography for prenatal sex identification.

J Ultrasound Med 2010 Feb;29(2):195-202

Department of Radiology, University of California, San Diego, 9300 Campus Point Dr, 7756, La Jolla, CA 92037 USA.

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http://dx.doi.org/10.7863/jum.2010.29.2.195DOI Listing
February 2010

Acardiac fetus: evidence in support of a vascular/hypoxia pathogenesis for isolated oral clefting.

Birth Defects Res A Clin Mol Teratol 2008 Aug;82(8):597-600

Division of Dysmorphology/Teratology, Department of Pediatrics, University of California, San Diego, School of Medicine, La Jolla, California 92093-0828, USA.

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http://dx.doi.org/10.1002/bdra.20473DOI Listing
August 2008

Developmental outcome in Kabuki syndrome.

Am J Med Genet A 2005 Jan;132A(3):263-4

Division of Dysmorphology, Department of Pediatrics, University of California, San Diego, La Jolla, California, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30338
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http://dx.doi.org/10.1002/ajmg.a.30338DOI Listing
January 2005

Neonatal phenotype in Kabuki syndrome.

Am J Med Genet A 2005 Jan;132A(3):244-7

Department of Pediatrics, University of California, San Diego, La Jolla, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.30336DOI Listing
January 2005

Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature--is sonic hedgehog the common pathway?

Am J Med Genet A 2005 Jan;132A(3):314-7

Department of Pediatrics, University of California, San Diego, La Jolla, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.30286DOI Listing
January 2005

Acardiac twin with externalized intestine adherent to placenta: unusual manifestation of omphalocele.

Pediatr Dev Pathol 2004 Jan-Feb;7(1):81-5

Department of Pathology, Autopsy Service, University of California San Diego Medical Center, 200 West Arbor Drive, San Diego, CA 92103-8321, USA.

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http://link.springer.com/10.1007/s10024-003-5052-8
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http://dx.doi.org/10.1007/s10024-003-5052-8DOI Listing
November 2004

Vocal cord abnormalities in Williams syndrome: a further manifestation of elastin deficiency.

Am J Med Genet A 2003 Jun;119A(3):302-4

Department of Pediatrics, University of California, San Diego, School of Medicine, La Jolla, California 92103-8446, USA.

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http://dx.doi.org/10.1002/ajmg.a.20169DOI Listing
June 2003

Cyclophosphamide, methotrexate, and cytarabine embropathy: is apoptosis the common pathway?

Birth Defects Res A Clin Mol Teratol 2003 Jun;67(6):403-8

University of California San Diego, Department of Pediatrics, San Diego, California 92103-8446, USA.

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http://dx.doi.org/10.1002/bdra.10060DOI Listing
June 2003