Publications by authors named "Dima El-Khechen"

15Publications

Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.

Pediatr Neurol 2017 05 8;70:34-43.e2. Epub 2017 Feb 8.

Clinical Genomics Department, Ambry Genetics, Aliso Viejo, California.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.01.033DOI Listing
May 2017

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
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http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

A unique presentation of 22q13 deletion syndrome: multicystic kidney, orofacial clefting, and Wilms' tumor.

Clin Dysmorphol 2011 Jan;20(1):53-4

St Vincent Women's Hospital Department of Maternal Fetal Medicine and Genetics, Indianapolis, Indiana, USA.

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http://dx.doi.org/10.1097/MCD.0b013e32833effb1DOI Listing
January 2011