Bita Bozorgmehr

Bita Bozorgmehr

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Bita Bozorgmehr

Bita Bozorgmehr

Publications by authors named "Bita Bozorgmehr"

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18Publications

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Novel mutations and a severe neurological phenotype in Sjögren-Larsson syndrome patients from Iran.

Eur J Med Genet 2018 Mar 26;61(3):139-144. Epub 2017 Nov 26.

Department of Pediatrics, UNMC Child Health Research Institute, University of Nebraska Medical Center, Omaha, NE, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173072
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http://dx.doi.org/10.1016/j.ejmg.2017.11.006DOI Listing
March 2018

Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.

J Invest Dermatol 2014 Sep 16;134(9):2331-2338. Epub 2014 Apr 16.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X153696
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http://dx.doi.org/10.1038/jid.2014.191DOI Listing
September 2014

Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation.

Am J Med Genet A 2014 May 25;164A(5):1322-7. Epub 2014 Mar 25.

Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.

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http://doi.wiley.com/10.1002/ajmg.a.36008
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http://dx.doi.org/10.1002/ajmg.a.36008DOI Listing
May 2014

Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.

Am J Med Genet A 2008 Dec;146A(23):3058-61

Department of Pediatrics, Emma Children's Hospital, AMC Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.32566DOI Listing
December 2008

Clinical variability in acro-cardio-facial-syndrome.

Am J Med Genet A 2008 Aug;146A(15):1977-9

Kariminejad & Najmabadi Genetic and Pathology Center, Tehran, Iran.

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http://dx.doi.org/10.1002/ajmg.a.32052DOI Listing
August 2008

Skull defects, alopecia and distinctive facies: a new syndrome?

Clin Dysmorphol 2008 Jul;17(3):203-5

Kariminejad and Najmabadi Genetic and Pathology Center, Tehran, Iran.

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http://dx.doi.org/10.1097/MCD.0b013e3282fba59dDOI Listing
July 2008