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Plos Genetics|December 31, 2009
The human retinoblastoma gene is imprintedDeniz Kanber, Tea Berulava, Ole Ammerpohl, et al.Journal of Neurochemistry|December 18, 2002
The synaptophysin/synaptobrevin interaction critically depends on the cholesterol contentDiana Mitter, Clemens Reisinger, Britta Hinz, et al.American Journal of Medical Genetics. Part A|August 15, 2006
Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCRDiana Mitter, Karin Buiting, Ferdinand von Eggeling, et al.American Journal of Medical Genetics. Part A|February 19, 2015
Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?Christina Evers, Diana Mitter, Gertrud Strobl-Wildemann, et al.Human Genetics|December 16, 2006
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing lossInga Ebermann, Hendrik P N Scholl, Peter Charbel Issa, et al.Aging|June 28, 2013
Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435CSven Starke, Peter Meinke, Daria Camozzi, et al.American Journal of Medical Genetics. Part A|April 29, 2010
Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1Diana Mitter, Barbara Delle Chiaie, Hermann-Josef Lüdecke, et al.Annals of Neurology|July 18, 2018
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up DevelopmentKonrad Platzer, Benjamin Cogné, Jennifer Hague, et al.Human Mutation|July 27, 2019
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4Nadja Ballin, Alrun Hotz, Emmanuelle Bourrat, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 22, 2016
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutationKarim Kouz, Christina Lissewski, Stephanie Spranger, et al.Pageof 3