Publications by authors named "Elisa Bettella"

11Publications

Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype.

J Hum Genet 2020 Oct 28;65(10):855-864. Epub 2020 May 28.

Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padua, Padua, Italy.

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http://dx.doi.org/10.1038/s10038-020-0783-1DOI Listing
October 2020

Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.

Eur J Paediatr Neurol 2018 Nov 3;22(6):1042-1053. Epub 2018 Jul 3.

Department of Neurosciences, University Hospital of Padua, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.06.010DOI Listing
November 2018

A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.

Int J Pediatr Otorhinolaryngol 2018 Jan 31;104:88-93. Epub 2017 Oct 31.

Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padova, Italy; Neuroscience Department, University of Padova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2017.10.042DOI Listing
January 2018

Identification of four novel PCDH19 Mutations and prediction of their functional impact.

Ann Hum Genet 2014 Nov 17;78(6):389-98. Epub 2014 Sep 17.

Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padua, Padua, Italy.

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http://dx.doi.org/10.1111/ahg.12082DOI Listing
November 2014

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.

Am J Med Genet A 2009 Feb;149A(2):232-6

Department of Pediatrics, Pediatric Neurology Unit, University of Padua, Padua, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32606DOI Listing
February 2009