Publications by authors named "Aida Bertoli Avella"

63Publications

Reply letter to Battke et al.

Eur J Hum Genet 2021 Feb 17. Epub 2021 Feb 17.

CENTOGENE GmbH, Rostock, Germany.

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February 2021

Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders.

Clin Genet 2021 Jan 13. Epub 2021 Jan 13.

Genetics Department, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisbon, Portugal.

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January 2021

Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.

Eur J Med Genet 2020 Aug 15;63(8):103952. Epub 2020 May 15.

Service of Genetics and Cytogenetics Unit, Division of Pediatrics, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Mexico; University of Guadalajara, Health Sciences University Center, Department of Molecular Biology and Genomics, 'Dr. Enrique Corona-Rivera' Institute of Human Genetics, Guadalajara, Jalisco, Mexico. Electronic address:

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August 2020

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Acta Neuropathol 2020 03 9;139(3):415-442. Epub 2019 Dec 9.

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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March 2020