Nele Bockaert

Redefining the MED13L syndrome

Abidemi Adegbola, Luciana Musante, Bert Callewaert et al. · European Journal of Human Genetics · 2015 · 86 citations · Full text

Life Sciences, Neurology, Medical Genetics +7

<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity

Ilse Meerschaut, Daniel Rochefort, Nicole Revençu et al. · Journal of Medical Genetics · 2017 · 80 citations · Full text

Medicine, Genetics, Molecular Genetics +17

<i>TUBA1A</i> mutations

Anna Jansen, Ann Oostra, Brigitte Desprechins et al. · Neurology · 2011 · 69 citations

Life Sciences, Genetics, Molecular Genetics +14

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

Nina De Rocker, Sarah Vergult, David A. Koolen et al. · Genetics in Medicine · 2014 · 59 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Acetazolamide for severe apnea in Pitt–Hopkins syndrome

Stijn Verhulst, Jozef De Dooy, José Ramet et al. · American Journal of Medical Genetics Part A · 2012 · 24 citations

Life Sciences, Clinical Sciences, Neurology +12