Zirn, Birgit

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Finding of Rare Disease Genes (FORGE) Canada Consortium, Rivière, J.-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., et al. (2012) · Nature Genetics

Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases

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Phenotypic spectrum associated with CASK loss-of-function mutations

Moog, U., Kutsche, K., Kortüm, F., Chilian, B., Bierhals, T., Apeshiotis, N., Balg, S., Chassaing, N., Coubes, C., Das, S., et al. (2011) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 135