Barbara Kloeckener‐Gruissem

Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

Peter Thijssen, Yuya Ito, Giacomo Grillo et al. · Nature Communications · 2015 · 207 citations · Full text

Mutations in CABP4, the Gene Encoding the Ca2+-Binding Protein 4, Cause Autosomal Recessive Night Blindness

Christina Zeitz, Barbara Kloeckener‐Gruissem, U. Förster et al. · The American Journal of Human Genetics · 2006 · 179 citations · Full text

Ocular Disease, Signal Transduction, Retina +9

Correlation between recent thymic emigrants and CD31⁺ (PECAM‐1) CD4⁺ T cells in normal individuals during aging and in lymphopenic children

Sonja Junge, Barbara Kloeckener‐Gruissem, Romain Zufferey et al. · European Journal of Immunology · 2007 · 158 citations · Full text

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

Corry M.R. Weemaes, Maarten JD van Tol, Jun Wang et al. · European Journal of Human Genetics · 2013 · 137 citations · Full text

Heterogeneous Clinical Presentation, Icf Syndrome, Mendelian Disorder +12

Genetic Association with Response to Intravitreal Ranibizumab in Patients with Neovascular AMD

Barbara Kloeckener‐Gruissem, Daniel Barthelmes, Stephan Labs et al. · Investigative Ophthalmology & Visual Science · 2011 · 120 citations