Gabriele du Bois

Mutations of the <i>CEP290</i> gene encoding a centrosomal protein cause Meckel-Gruber syndrome

Valeska Frank, Anneke I. den Hollander, Nadina Ortiz Brüchle et al. · Human Mutation · 2007 · 159 citations

Life Sciences, Genetics, Molecular Genetics +15

The second report of a new hypomyelinating disease due to a defect in the <i>VPS11</i> gene discloses a massive lysosomal involvement

Konstanze Hörtnagel, Inge Krägeloh‐Mann, Antje Bornemann et al. · Journal of Inherited Metabolic Disease · 2016 · 30 citations · Full text

Medicine, Neurology, Neuroscience +17

Aberrant splicing is a common mutational mechanism inMKS1, a key player in Meckel-Gruber syndrome

Valeska Frank, Nadina Ortiz Brüchle, Silke Mager et al. · Human Mutation · 2007 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum

Anna Lena Burgemeister, Eva Daumiller, Gabriele du Bois et al. · European Journal of Medical Genetics · 2018 · 18 citations

Medicine, Neurology, Human Genetics +2