A.C.J. Gijsbers

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

Emilia K. Bijlsma, A.C.J. Gijsbers, Janneke Schuurs-Hoeijmakers et al. · European Journal of Medical Genetics · 2009 · 292 citations

Life Sciences, Genetics, Molecular Genetics +16

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

Jeroen Knijnenburg, Saskia A.J. Lesnik Oberstein, Klemens Frei et al. · Journal of Medical Genetics · 2009 · 63 citations

Life Sciences, Genetics, Molecular Genetics +17

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

Emilia K. Bijlsma, Andrew Collins, Filomena Tiziana Papa et al. · European Journal of Medical Genetics · 2012 · 54 citations

Life Sciences, Genetics, Molecular Genetics +14

Genetic Analysis of Short Children with Apparent Growth Hormone Insensitivity

Jan M. Wit, Hermine A. van Duyvenvoorde, Sitha A. Scheltinga et al. · Hormone Research in Paediatrics · 2012 · 49 citations · Full text

Life Sciences, Endocrinology, Genetics +17

Estimates of live birth prevalence of children with <scp>D</scp>own syndrome in the period 1991–2015 in the <scp>N</scp>etherlands

Gert de Graaf, J.J.M. Engelen, A.C.J. Gijsbers et al. · Journal of Intellectual Disability Research · 2017 · 31 citations · Full text

Public Health, Maternal Health, Obstetrics +17