Patrick Rump

<i>GRIN2A</i> -related disorders: genotype and functional consequence predict phenotype

Vincent Strehlow, Henrike Heyne, Danique R.M. Vlaskamp et al. · Brain · 2018 · 229 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome

Cornelis J. Boogerd, Dennis Dooijes, Aho Ilgun et al. · Cardiovascular Research · 2010 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Drayer’s syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter)

Patrick Rump, Trijnie Dijkhuizen, Birgit Sikkema‐Raddatz et al. · Clinical Genetics · 2008 · 31 citations

Life Sciences, Genetics, Molecular Genetics +17