Berkley R Powell

Berkley R Powell

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Berkley R Powell

Berkley R Powell

Publications by authors named "Berkley R Powell"

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CDKL5 and ARX mutations in males with early-onset epilepsy.

Pediatr Neurol 2013 May;48(5):367-77

Division of Genetic Medicine, Department of Pediatrics, University of Washington and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington 98101, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.12.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3742321PMC
May 2013

Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male.

Am J Med Genet A 2006 Jul;140(13):1463-71

Department of Laboratory Medicine, University of California-San Francisco, 185 Berry Street, San Francisco, CA 94107, USA.

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http://dx.doi.org/10.1002/ajmg.a.31291DOI Listing
July 2006

Clinical diagnoses that overlap with choroideremia.

Can J Ophthalmol 2003 Aug;38(5):364-72; quiz 372

Department of Ophthalmology, University of Alberta, Edmonton, Alta.

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http://dx.doi.org/10.1016/s0008-4182(03)80047-9DOI Listing
August 2003

Dyggve-Melchior-Clausen syndrome: report of seven patients with the Smith-McCort variant and review of the literature.

J Pediatr Orthop 2003 Jan-Feb;23(1):88-93

Shriners Hospitals for Children, Honolulu, Hawaii, USA.

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April 2003

Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.

Am J Hum Genet 2003 Feb 16;72(2):419-28. Epub 2002 Dec 16.

Medical Genetics-Birth Defects Center, Ahmanson Department of Pediatrics, Cedars-Sinai Research Institute and Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90048, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970760550
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http://dx.doi.org/10.1086/346176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC420018PMC
February 2003