Wilnai, Yael

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., et al. (2016) · The American Journal of Human Genetics

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 143

The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations

Janecke, A. R., Li, B., Boehm, M., Krabichler, B., Rohrbach, M., Müller, T., Fuchs, I., Golas, G., Katagiri, Y., Ziegler, S. G., et al. (2016) · American Journal of Medical Genetics Part A

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 66