F. Pauly

发表

Christianson syndrome in a patient with an interstitial Xq26.3 deletion

W. Reith, A. Tzschach, R. Ullmann, 2011, American journal of medical genetics. Part A.

Autosomal‐dominant early‐onset spastic paraparesis with brain calcification due to IFIH1 gain‐of‐function

Y. Crow, W. Dobyns, A. M. de Noordhout, 2018, Human mutation.

Genetic spectrum of hereditary neuropathies with onset in the first year of life

B. Ceulemans, Y. Parman, E. Battaloğlu, 2011, Brain : a journal of neurology.

A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.

R. Kooy, E. Fransen, P. van Bogaert, 1999, American journal of human genetics.