Ilse de Wijs

Heterozygous Deep-Intronic Variants and Deletions in<i>ABCA4</i>in Persons with Retinal Dystrophies and One Exonic<i>ABCA4</i>Variant

Nathalie M. Bax, Riccardo Sangermano, Susanne Roosing et al. · Human Mutation · 2014 · 76 citations

Genetics, Pathology, Molecular Genetics +17

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

Gaby Schobers, Jolanda Schieving, Helger G. Yntema et al. · Genome Medicine · 2022 · 53 citations · Full text

Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation

Daniëlle de Vries, Ilse de Wijs, W. Ruitenbeek et al. · Journal of the Neurological Sciences · 1994 · 49 citations

Clinical Symptoms, Mendelian Disorder, Melas Family +10

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome

Jorieke E. H. Bergman, Ilse de Wijs, Marjolijn C.J. Jongmans et al. · European Journal of Medical Genetics · 2008 · 33 citations

Charge-like Syndrome, Genetic Disorder, Genetics +6

Yeast Artificial Chromosome Cloningof the Xq13.3-q21.31 Region and FineMapping of a Deletion Associated withChoroideremia and NonspecificMental Retardation

Silvère M. van der Maarel, Inge H. J. M. Scholten, J A Maat-Kievit et al. · European Journal of Human Genetics · 1995 · 16 citations