Anita Wischmeijer

Bolzano, 39100, Italy

Last Updated: 09/26/2026

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Found 29 publications

Unraveling the Functional Impact of Splicing Variants in Inherited Hearing Disorders Through Minigene Splicing Assays.

Unraveling the Functional Impact of Splicing Variants in Inherited Hearing Disorders Through Minigene Splicing Assays.

Journal: Biomedicines

Published: August 05, 2025

Proceedings of the 15th International Newborn Brain Conference: Neonatal Neurocritical Care, seizures, and continuous aEEG and /or EEG monitoring: Fota Island, Cork, Ireland, February 28th - March 2nd 2024.

Proceedings of the 15th International Newborn Brain Conference: Neonatal Neurocritical Care, seizures, and continuous aEEG and /or EEG monitoring: Fota Island, Cork, Ireland, February 28th - March 2nd 2024.

Journal: Journal of neonatal-perinatal medicine

Published: August 05, 2024

Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patients.

Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patients.

Journal: BMC medicine

Published: July 11, 2024

Olfactory bulb anomalies in KBG syndrome mouse model and patients.

Olfactory bulb anomalies in KBG syndrome mouse model and patients.

Journal: BMC medicine

Published: August 02, 2023

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.

Journal: Genes

Published: June 30, 2023

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.

Journal: Frontiers in genetics

Published: December 04, 2019

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.

Journal: Genes

Published: August 27, 2019

Aortic arch geometry predicts outcome in patients with Loeys-Dietz syndrome independent of the causative gene.

Aortic arch geometry predicts outcome in patients with Loeys-Dietz syndrome independent of the causative gene.

Journal: American journal of medical genetics. Part A

Published: June 24, 2019

"Spot diagnosis" or "spot the diagnosis"?

"Spot diagnosis" or "spot the diagnosis"?

Journal: Journal of the neurological sciences

Published: May 22, 2017

A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature.

A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature.

Journal: Ophthalmic genetics

Published: May 05, 2017

Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.

Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.

Journal: Blood cells, molecules & diseases

Published: December 09, 2016

Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role.

Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role.

Journal: Interactive cardiovascular and thoracic surgery

Published: October 20, 2016

Showing 1-12 of 29

Last Updated: 09/26/2026