M.C.J. Jongmans

CHARGE syndrome: the phenotypic spectrum of mutations in the <i>CHD7</i> gene

M.C.J. Jongmans, R.J.C. Admiraal, Kim P. van der Donk et al. · Journal of Medical Genetics · 2005 · 461 citations · Full text

Medicine, Genetics, Molecular Genetics +16

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

<i>CHD7</i> mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome

M.C.J. Jongmans, CMA Van Ravenswaaij‐Arts, Nelly Pitteloud et al. · Clinical Genetics · 2008 · 208 citations · Full text

Life Sciences, Endocrinology, Genetics +13