Mislen Bauer

Mislen Bauer

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Mislen Bauer

Mislen Bauer

Publications by authors named "Mislen Bauer"

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14Publications

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A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome.

Am J Med Genet A 2019 Sep 11;179(9):1866-1871. Epub 2019 Jul 11.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajmg.a.61291DOI Listing
September 2019

Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair.

J AAPOS 2017 Dec 31;21(6):514-516. Epub 2017 Oct 31.

Bascom Palmer Eye Institute, Miami, Florida.

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http://dx.doi.org/10.1016/j.jaapos.2017.07.216DOI Listing
December 2017

New JAG1 Mutation Causing Alagille Syndrome Presenting With Severe Hypercholesterolemia: Case Report With Emphasis on Genetics and Lipid Abnormalities.

J Clin Endocrinol Metab 2017 02;102(2):350-353

Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Miami Miller School of Medicine, Miami, Florida 33136; and.

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http://dx.doi.org/10.1210/jc.2016-3171DOI Listing
February 2017

De novo mutations in PURA are associated with hypotonia and developmental delay.

Cold Spring Harb Mol Case Stud 2015 Oct;1(1):a000356

Department of Pediatrics, Columbia University Medical Center, New York, New York 10029, USA;; Department of Medicine, Columbia University Medical Center, New York, New York 10032, USA.

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http://dx.doi.org/10.1101/mcs.a000356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850890PMC
October 2015

Two extraordinarily severe cases of Treacher Collins syndrome.

Am J Med Genet A 2013 Mar 7;161A(3):445-52. Epub 2013 Feb 7.

Craniofacial Center, Miami Children's Hospital, Florida, USA.

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http://dx.doi.org/10.1002/ajmg.a.35397DOI Listing
March 2013

Epiretinal membranes indicate a severe phenotype of neurofibromatosis type 2.

Retina 2010 Apr;30(4 Suppl):S51-8

Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA.

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http://pdfs.journals.lww.com/retinajournal/2010/04001/Epiret
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http://dx.doi.org/10.1097/IAE.0b013e3181dc58bfDOI Listing
April 2010