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Journal of the Peripheral Nervous System : JPNS|February 19, 2016
Late onset dHMN II caused by c.404C>G mutation in HSPB1 geneMoritz Oberstadt, Diana Mitter, Joseph Classen, et al.American Journal of Medical Genetics. Part A|February 8, 2008
Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous fatherDiana Mitter, Deborah Krakow, Claire Farrington-Rock, et al.The Journal of Endocrinology|May 31, 2007
Estrogen receptor {beta}1 exerts antitumoral effects on SK-OV-3 ovarian cancer cellsOliver Treeck, Georg Pfeiler, Diana Mitter, et al.European Journal of Human Genetics : EJHG|December 13, 2012
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspringAndreas Rump, Laura Hildebrand, Andreas Tzschach, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|January 30, 2016
A 33-year-old male patient with paternal derived duplication of 14q11.2-14q22.1~22.3: clinical course, phenotypic and genotypic findingsBardo Wannenmacher, Diana Mitter, Franziska Kießling, et al.Clinical Endocrinology|June 30, 2015
Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3Konstanze Miehle, Joseph Porrmann, Diana Mitter, et al.Familial Cancer|May 30, 2008
Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastomaDiana Mitter, Diane Rushlow, Inga Nowak, et al.Journal of Neurochemistry|June 17, 2004
The synaptophysin/synaptobrevin complex dissociates independently of neuroexocytosisClemens Reisinger, Sowmya V Yelamanchili, Britta Hinz, et al.European Journal of Human Genetics : EJHG|April 21, 2011
Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletionsDiana Mitter, Reinhard Ullmann, Artur Muradyan, et al.American Journal of Medical Genetics. Part A|July 26, 2017
Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalitiesDenise Horn, Eberhard Siebert, Ulrich Seidel, et al.Pageof 3