@article{UBHD-68713561, author={Giorgio, Elisa and Rolyan, Harshvardhan and Kropp, Laura and Chakka, Anish Baswanth and Yatsenko, Svetlana and Gregorio, Eleonora Di and Lacerenza, Daniela and Vaula, Giovanna and Talarico, Flavia and Mandich, Paola and Toro, Camilo and Pierre, Eleonore Eymard and Labauge, Pierre and Capellari, Sabina and Cortelli, Pietro and Vairo, Filippo Pinto and Miguel, Diego and Stubbolo, Danielle and Marques, Lourenco Charles and Gahl, William and Boespflug‐Tanguy, Odile and Melberg, Atle and Hassin‐Baer, Sharon and Cohen, Oren S. and Pjontek, Rastislav and Grau, Armin J. and Klopstock, Thomas* and Fogel, Brent and Meijer, Inge and Rouleau, Guy and Bouchard, Jean-Pierre L. and Ganapathiraju, Madhavi and Vanderver, Adeline and Dahl, Niklas and Hobson, Grace and Brusco, Alfredo and Brussino, Alessandro and Padiath, Quasar Saleem}, title={Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression}, year={2013}, pages={1160-1171}, language={eng}, issn={1098-1004}, volume={34}, number={8}, note={Gesehen am 17.03.2021 ; Correction(s) for this article: Volume 35, Issue 1, Human Mutation, pages: 149-149 ; First Published online: October 28, 2013}, journal={Human mutation}, doi={10.1002/humu.22348}, } @article{UBHD-68255708, author={Grond-Ginsbach, Caspar and Pjontek, Rastislav and Wiest, Tina and Burwinkel, Barbara and Kloss, Manja and Arnold, Marie-Luise and Lichy, Christoph and Haußer-Siller, Ingrid}, title={Copy number variation in patients with cervical artery dissection}, year={2012}, pages={1295-1299}, language={eng}, issn={1476-5438}, volume={20}, number={12}, note={Gesehen am 29.05.2019}, journal={European journal of human genetics}, doi={10.1038/ejhg.2012.82}, } @article{UBHD-69079901, author={Grond-Ginsbach, Caspar and Pjontek, Rastislav and Aksay, Suna Su and Hyhlik-D{\"u}rr, Alexander and B{\"o}ckler, Dittmar and Groß-Weissmann, Marie-Luise}, title={Spontaneous arterial dissection}, subtitle={phenotype and molecular pathogenesis}, year={2010}, pages={1799-1815}, language={eng}, issn={1420-9071}, volume={67}, number={11}, note={Gesehen am 26.05.2023}, journal={Cellular and molecular life sciences}, doi={10.1007/s00018-010-0276-z}, } @book{UBHD-67545836, author={Kadmon, Martina}, organization={Universit{\"a}t Heidelberg / Medizinische Fakult{\"a}t}, title={Heidelberger Standarduntersuchung}, subtitle={Handlungsanweisungen zur Durchf{\"u}hrung der k{\"o}rperlichen Untersuchung; [interdisziplin{\"a}re Handlungsanweisungen zur Durchf{\"u}hrung der k{\"o}rperlichen Untersuchung]}, edition={2. Aufl.}, publisher={HeiCuMed}, address={Heidelberg}, year={2013}, pages={IX, 403 S.}, language={ger}, isbn={978-3-00-045957-3}, note={Hier auch sp{\"a}ter erschienene, unver{\"a}nderte Nachdrucke}, library={UB [Signatur: LN-O 8-17527::(2)] ; UB [Signatur: UBN/YV 1603 P695(2)] ; UW [Signatur: Int 21/2:b] ; UW [Signatur: G 2 a] ; UW [Signatur: Int 21/2:a] ; UW [Signatur: Int 21/2:c] ; UW [Signatur: Int 21/2:d] ; UW [Signatur: Int 21/2:e] ; UW [Signatur: Int 21/2:f] ; UW [Signatur: Int 21/2:g] ; UW [Signatur: Int 21/2:h] ; UW [Signatur: Int 21/2:j] ; UW [Signatur: Int 21/2:k]}, } @book{UBHD-69082428, author={Pjontek, Rastislav}, organization={Universit{\"a}t Heidelberg}, title={Copy number variation in patients with cervial artery dissection}, address={Heidelberg}, year={2022}, pages={100 Bl{\"a}tter}, language={eng}, school={Dissertation, Ruprecht-Karls-Universit{\"a}t Heidelberg, 2023}, library={UB [Signatur: 2023 U 487]}, } @book{UBHD-68078108, editor={Kadmon, Martina and Nikendei, Christoph and Huwendiek, S{\"o}ren and Steiner, Thorsten}, organization={Universit{\"a}t Heidelberg / Medizinische Fakult{\"a}t}, title={Heidelberger Standarduntersuchung}, subtitle={Handlungsanweisungen zur Durchf{\"u}hrung der k{\"o}rperlichen Untersuchung}, edition={3. Auflage mit mehr als 700 Fotos, Grafiken und Schemata sowie zahlreichen {\"u}ber unser Videoportal zug{\"a}nglichen Lehrvideos}, publisher={Projekt Heidelberger Klinische Standards HeiCuMed}, address={Heidelberg}, year={2016}, pages={IX, 403 Seiten}, language={ger}, isbn={978-3-00-053077-7}, note={Auf dem Buchdeckel: Interdisziplin{\"a}re Handlungsanweisungen zur Durchf{\"u}hrung der k{\"o}rperlichen Untersuchung ; Literaturverzeichnis: Seite 388-389 ; Hier auch sp{\"a}ter erschienene, unver{\"a}nderte Nachdrucke}, keywords={Medizin / Untersuchung / Anamnese}, library={UB [Signatur: LN-O 8-17527::(3)] ; UG [Signatur: UG/YV 1603 T112(3)] ; UW [Signatur: G 2 a] ; UW [Signatur: Int 21/3:a] ; UW [Signatur: Int 21/3:c] ; UW [Signatur: Int 21/3:d] ; UW [Signatur: Int 21/3:e] ; UW [Signatur: Int 21/3:f] ; UW [Signatur: Int 21/3:g] ; UW [Signatur: Int 21/3:h] ; UW [Signatur: Int 21/3:i] ; UW [Signatur: Int 21/3:j] ; UW [Signatur: Int 21/3:k] ; UW [Signatur: Int 21/3:l] ; UW [Signatur: Int 21/3:m] ; UW [Signatur: Int 21/3:n] ; UW [Signatur: Int 21/3:o] ; UW [Signatur: Int 21/3:p] ; UW [Signatur: G 2 a] ; UW [Signatur: G 2 a] ; UW [Signatur: G 2 a]}, }