Elisabetta Lenzini

Elisabetta Lenzini

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Elisabetta Lenzini

Elisabetta Lenzini

Publications by authors named "Elisabetta Lenzini"

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13Publications

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Ichthyosis and Kallmann syndrome: not always a contiguous gene syndrome.

J Dermatol Sci 2015 May 16;78(2):158-60. Epub 2015 Feb 16.

Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Italy.

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http://dx.doi.org/10.1016/j.jdermsci.2015.02.005DOI Listing
May 2015

Ring 17 syndrome: first clinical report without intellectual disability.

Epileptic Disord 2015 Mar;17(1):84-7; quiz 88

Epilepsy Unit, Department of Child and Mother Health, University of Padua, Padua.

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http://dx.doi.org/10.1684/epd.2015.0726DOI Listing
March 2015

Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene.

JIMD Rep 2014 16;14:1-9. Epub 2013 Nov 16.

Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1007/8904_2013_276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213335PMC
October 2014

De novo trisomy 20p characterized by array comparative genomic hybridization: report of a novel case and review of the literature.

Gene 2013 Jul 21;524(2):368-72. Epub 2013 Apr 21.

Child Neurology Unit, Department of Women's and Children's Health, University of Padua, Italy.

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http://dx.doi.org/10.1016/j.gene.2013.04.033DOI Listing
July 2013

Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.

Hum Mutat 2013 Jan 17;34(1):229-36. Epub 2012 Oct 17.

Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1002/humu.22233DOI Listing
January 2013

Familial subtelomeric rearrangement of chromosomes 19 and 20: a new contribution to partial distal 19q trisomy.

Genet Test Mol Biomarkers 2010 Oct 20;14(5):695-701. Epub 2010 Sep 20.

Pediatrics Department, University of Padua, Padova, Italy.

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http://dx.doi.org/10.1089/gtmb.2010.0079DOI Listing
October 2010

1q44-qter trisomy: clinical report and review of the literature.

Genet Test Mol Biomarkers 2009 Feb;13(1):79-86

Molecular Cytogenetic Laboratory, Pediatrics Department, University of Padua, Padova, Italy.

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http://dx.doi.org/10.1089/gtmb.2008.0075DOI Listing
February 2009