Publications by authors named "Giuseppina Vitiello"

14Publications

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.

Am J Hum Genet 2020 Oct 9;107(4):753-762. Epub 2020 Sep 9.

Center for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium; Laboratory for the Genetics of Cognition, Department of Human Genetics, KU Leuven, Herestraat 49, 3000 Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.08.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536573PMC
October 2020

Reply to letter: "Brain MRI abnormalities resembling unidentified bright objects in a patient with Phelan- McDermid syndrome".

Eur J Paediatr Neurol 2018 05 31;22(3):570. Epub 2018 Jan 31.

Department of Translational Medical Sciences, Section of Pediatrics, University of Naples Federico II, Naples, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2018.01.015DOI Listing
May 2018

An extremely severe phenotype attributed to WDR81 nonsense mutations.

Ann Neurol 2017 10;82(4):650-651

Department  of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1002/ana.25058DOI Listing
October 2017

Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).

Am J Hematol 2015 Oct;90(10):921-6

Department Of Molecular Medicine And Medical Biotechnologies, "Federico II" University Of Naples, Naples, Italy.

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http://dx.doi.org/10.1002/ajh.24117DOI Listing
October 2015

Puzzle of protein complexes in vivo: a present and future challenge for functional proteomics.

Expert Rev Proteomics 2009 Apr;6(2):159-69

Dipartimento di Chimica Organica e Biochimica and CEINGE Biotecnologie Avanzate s.c.a r.l., Università di Napoli Federico II, Via Comunale Margherita, 482 80145, Napoli, Italy.

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http://www.tandfonline.com/doi/full/10.1586/epr.09.7
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http://dx.doi.org/10.1586/epr.09.7DOI Listing
April 2009