Ghent University Academic Bibliography

Show Sort by

Your filters: cql: author="AEBY, A*" or (type exact bookEditor and editor="AEBY, A*")

Add to list
- Journal Article
- A1
- open access
Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, et al.

(2021) MOLECULAR GENETICS & GENOMIC MEDICINE. 9(9).
Add to list
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

YJ Crow, DS Chase, JL Schmidt, M Szynkiewicz, GMA Forte, HL Gornall, A Oojageer, B Anderson, A Pizzino, G Helman, et al.

(2015) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 167(2). p.296-312
Add to list
A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome

C Vilain, C Rens, A Aeby, D Balériaux, P Van Bogaert, G Remiche, Joél Smet (UGent) , Rudy Van Coster (UGent) , M Abramowicz and I Pirson

(2012) CLINICAL GENETICS. 82(3). p.264-270
Add to list
- Miscellaneous
Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q(10) deficiency

A AEBY, Y SZNAJER, H CAVÉ, E REBUFFAT, Rudy Van Coster (UGent) , O RIGAL and P VAN BOGAERT

(2007) JOURNAL OF INHERITED METABOLIC DISEASE. 30(5). p.827-827
Add to list
- Journal Article
- A1
Clinical and molecular phenotype of Aicardi-Goutieres syndrome

G RICE, T PATRICK, R PARMAR, CF TAYLOR, A AEBY, J AICARDI, R ARTUCH, SA MONTALTO, CA BACINO, B BARROSO, et al.

(2007) AMERICAN JOURNAL OF HUMAN GENETICS. 81(4). p.713-725

Academic Bibliography

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q(10) deficiency

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Contents

Support

Contact