@article{UBHD-68239782, author={Aidery, Parwez and Kisselbach, Jana and Gaspar, Harald and Baldea, Ioana and Schweizer, Patrick Alexander and Becker, R{\"u}diger and Katus, Hugo and Thomas, Dierk}, title={Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2}, year={2012}, pages={830-835}, language={eng}, issn={0006-291X}, volume={418}, number={4}, note={Gesehen am 05.04.2018}, journal={Biochemical and biophysical research communications}, doi={10.1016/j.bbrc.2012.01.118}, } @article{UBHD-68697391, author={Callewaert, Bert and Su, Chi-Ting and Van Damme, Tim and Vlummens, Philip and Malfait, Fransiska and Vanakker, Olivier and Schulz, Bianca and Mac Neal, Meghan and Davis, Elaine C. and Lee, Joseph G. H. and Salhi, Aicha and Unger, Sheila and Heimdal, Ketil and De Almeida, Salome and Kornak, Uwe and Gaspar, Harald and Bresson, Jean-Luc and Prescott, Katrina and Gosendi, Maria E. and Mansour, Sahar and Piérard, Gérald E. and Madan-Khetarpal, Suneeta and Sciurba, Frank and Symoens, Sofie and Coucke, Paul J. and Van Maldergem, Lionel and Urban, Zsolt and De Paepe, Anne}, title={Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa}, year={2013}, pages={111-121}, language={eng}, issn={1098-1004}, volume={34}, number={1}, note={Available online: 2012 Aug 13 ; Gesehen am 09.02.2021}, journal={Human mutation}, doi={10.1002/humu.22165}, } @article{UBHD-68332353, author={Evers, Christina and Gaspar, Harald and Kloor, Matthias and Bozukova, Gergana and Kadmon, Martina and Keller, Monika and Sutter, Christian and Moog, Ute}, title={Hepatoblastoma in two siblings and familial adenomatous polyposis}, subtitle={causal nexus or coincidence?}, year={2012}, pages={529-533}, language={eng}, issn={1573-7292}, volume={11}, number={3}, note={Gesehen am 26.11.2018}, journal={Familial cancer}, doi={10.1007/s10689-012-9538-2}, } @article{UBHD-69128249, author={Gaspar, Harald}, title={{\"A}tiologie und genetische Aspekte der M{\"o}bius-Sequenz}, year={2010}, pages={704-707}, language={ger}, issn={1433-0423}, volume={107}, number={8}, note={Gesehen am 10.10.2023}, journal={Der Ophthalmologe}, doi={10.1007/s00347-010-2146-3}, } @article{UBHD-68251884, author={Gribouval, Olivier and Picard, Nicole and Gaspar, Harald}, title={Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis}, year={2012}, pages={316-326}, language={eng}, issn={1098-1004}, volume={33}, number={2}, note={Gesehen am 14.05.2018}, journal={Human mutation}, doi={10.1002/humu.21661}, } @article{UBHD-68314835, author={Huth, Cathrin and Kloor, Matthias and Voigt, Anita Yvonne and Bozukova, Gergana and Evers, Christina and Gaspar, Harald and Tariverdian, Mirjam and Schirmacher, Peter and Knebel Doeberitz, Magnus von and Bl{\"a}ker, Hendrik}, title={The molecular basis of EPCAM expression loss in Lynch syndrome-associated tumors}, year={2012}, pages={911-916}, language={eng}, issn={1530-0285}, volume={25}, number={6}, note={Gesehen am 12.10.2018}, journal={Modern pathology}, doi={10.1038/modpathol.2012.30}, } @article{UBHD-68288194, author={Solomon, Benjamin and Gaspar, Harald}, title={Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog}, year={2012}, pages={473-479}, language={eng}, issn={1468-6244}, volume={49}, number={7}, note={Gesehen am 24.07.2018}, journal={Journal of medical genetics}, doi={10.1136/jmedgenet-2012-101008}, } @article{UBHD-68368369, author={Webb, Bryn D. and Gaspar, Harald and Camminady, Anne}, title={HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1−/−mice}, year={2012}, pages={171-179}, language={eng}, issn={1537-6605}, volume={91}, number={1}, note={Gesehen am 11.03.2019}, journal={The American journal of human genetics}, doi={10.1016/j.ajhg.2012.05.018}, }