Publications

Export 4 results:
Author Title [ Year(Asc)]
Filters: First Letter Of Last Name is H and Author is Hanson-Kahn, Andrea  [Clear All Filters]
2020
Lenz, D. et al. Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1. Genet Med 22, 1863-1873 (2020).
Hijazi, H. et al. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat 41, 150-168 (2020).
2018
Hanson-Kahn, A. et al. Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation. Am J Med Genet A 176, 2887-2891 (2018).
Dobyns, W. B. et al. MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Am J Hum Genet 103, 1009-1021 (2018).