Publications by authors named "Joseph J Shen"

13Publications

A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy.

J Pediatr Gastroenterol Nutr 2020 Jul 30. Epub 2020 Jul 30.

The Department of Pathology, University of California San Francisco, San Francisco, CA.

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http://dx.doi.org/10.1097/MPG.0000000000002870DOI Listing
July 2020

BRAT1-related disease--identification of a patient without early lethality.

Am J Med Genet A 2016 Mar 22;170(3):699-702. Epub 2015 Oct 22.

Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, California.

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http://dx.doi.org/10.1002/ajmg.a.37434DOI Listing
March 2016

Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes.

Authors:
Joseph J Shen

Clin Dysmorphol 2015 Apr;24(2):55-60

Medical Genetics and Metabolism, Valley Children's Hospital, Madera, California, USA.

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http://dx.doi.org/10.1097/MCD.0000000000000072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4345968PMC
April 2015

Activin signaling: effects on body composition and mitochondrial energy metabolism.

Endocrinology 2009 Aug 23;150(8):3521-9. Epub 2009 Apr 23.

Department of Pediatrics, MD Anderson Cancer Center, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1210/en.2008-0922DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2717868PMC
August 2009

Terminal deletion of chromosome 15q26.1: case report and brief literature review.

J Perinatol 2005 Jun;25(6):429-32

Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1038/sj.jp.7211301DOI Listing
June 2005

Low factor XII level in an individual with Sotos syndrome.

Pediatr Blood Cancer 2005 Feb;44(2):187-9

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1002/pbc.20177DOI Listing
February 2005

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.

Am J Med Genet A 2003 Apr;118A(2):384-9

Department of Molecular and Human Genetics, Baylor College of Medicine, Room S434, One Baylor Plaza, Houston, TX 77030, USA.

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April 2003

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.

Am J Med Genet 2002 Nov;112(4):384-9

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.10659DOI Listing
November 2002