Quijano-Roy, Susana

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

van de Kamp, J. M., Betsalel, O. T., Mercimek-Mahmutoglu, S., Abulhoul, L., Grünewald, S., Anselm, I., Azzouz, H., Bratkovic, D., de Brouwer, A., Hamel, B., et al. (2013) · Journal of Medical Genetics

Metabolism and Genetic DisordersGenetics and Neurodevelopmental Disorders

Cited by 164

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

Baumann, M., Giunta, C., Krabichler, B., Rüschendorf, F., Zoppi, N., Colombi, M., Bittner, R. E., Quijano-Roy, S., Muntoni, F., Cirak, S., et al. (2012) · The American Journal of Human Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 162

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

Lagrue, E., Dogan, C., De Antonio, M., Audic, F., Bach, N., Barnerias, C., Bellance, R., Cances, C., Chabrol, B., Cuisset, J.-M., et al. (2019) · Neurology

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 76