Petra E. Cohn‐Hokke

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

Javier Simón‐Sánchez, Elise G.P. Dopper, Petra E. Cohn‐Hokke et al. · Brain · 2012 · 269 citations · Full text

Update on Kleefstra Syndrome

Marjolein H. Willemsen, Anneke T. Vulto‐van Silfhout, Willy M. Nillesen et al. · Molecular Syndromology · 2011 · 178 citations · Full text

Down Syndrome, Chromatin, Developmental Biology +15

Retinal Arteriolar Geometry is Associated with Cerebral White Matter Hyperintensities on Magnetic Resonance Imaging

Fergus Doubal, Rosemarie de Haan, Petra E. Cohn‐Hokke et al. · International Journal of Stroke · 2010 · 42 citations · Full text

Rare Genetic Variant in <i>SORL1</i> May Increase Penetrance of Alzheimer’s Disease in a Family with Several Generations of <i>APOE</i>-<i>ɛ</i>4 Homozygosity

Eva Louwersheimer, Petra E. Cohn‐Hokke, Yolande A.L. Pijnenburg et al. · Journal of Alzheimer s Disease · 2016 · 38 citations · Full text

Functional characterization of the <i>TSC2</i> c.3598C&gt;T (p.R1200W) missense mutation that co‐segregates with tuberous sclerosis complex in mildly affected kindreds

Marjolein Wentink, Mark Nellist, Marianne Hoogeveen‐Westerveld et al. · Clinical Genetics · 2011 · 36 citations

Affected Kindreds, Genetics, Molecular Biology +17