J.A.P. Hiel

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study

Mijke M.M. Verhagen, James I. Last, Frans B.L. Hogervorst et al. · Human Mutation · 2011 · 166 citations

Clinical spectrum of ataxia-telangiectasia in adulthood

M.M.M. Verhagen, Wilson F. Abdo, Michèl A.A.P. Willemsen et al. · Neurology · 2009 · 166 citations

Toxoplasma retinitis/encephalitis 9 months after allogeneic bone marrow transplantation

Kees Brinkman, S. B. Debast, Robert W. Sauerwein et al. · Bone Marrow Transplantation · 1998 · 66 citations

Transplantation, Stem Cell Transplantation, Immunology +4

Harlequin syndrome: two new cases and a management proposal.

Willem Willaert, Marc R. Scheltinga, S F Steenhuisen et al. · PubMed · 2009 · 57 citations

Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia

J.A.P. Hiel, Baziel G.M. van Engelen, Corry M.R. Weemaes et al. · Neurology · 2006 · 37 citations

Neurological Disorder, Disease Gene Identification, Spinal Disorder +16