A. J. van Essen

The clinical spectrum of limb girdle muscular dystrophy A survey in the Netherlands

Anneke J. van der Kooi, P. G. Barth, H. F. M. Busch et al. · Brain · 1996 · 96 citations · Full text

Phenotype and genotype in 17 patients with Goltz–Gorlin syndrome

Saskia M. Maas, Maria Lombardi, A. J. van Essen et al. · Journal of Medical Genetics · 2009 · 84 citations · Full text

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.

A. J. van Essen, Alexander L.J. Kneppers, Annemarie H. van der Hout et al. · Journal of Medical Genetics · 1997 · 59 citations · Full text

Carrier Detection, Genetics, Becker Muscular Dystrophy +21

Loss-of-Function<i>FANCL</i>Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association

Annalisa Vetro, Maria Iascone, Ivan Limongelli et al. · Human Mutation · 2015 · 39 citations

Fanconi Anemia, Developmental Biology, Mendelian Disorder +14

Circulating matrix γ‐carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome

E. C. M. Cranenburg, Karin Y. van Spaendonck‐Zwarts, Luisa Bonafé et al. · Journal of Thrombosis and Haemostasis · 2011 · 31 citations · Full text

Autoimmune Disease, Biochemistry, Matrix γ‐Carboxyglutamate Protein +6