Authors: Rossler, LeonAff1, Aff2, IDs40477022006672_cor1, Lemburg, StefanAff1, Aff2, Weitkämper, Almut, Thiels, Charlotte, Hoffjan, Sabine, Nguyen, Huu Phuc, Lücke, Thomas, Heyer, Christoph M.Aff1, Aff2
Superior Title: Journal of Ultrasound: The Official Journal of the Italian Society for Ultrasound in Medicine and Biology. 26(4):757-764
Authors: Ramond, Francis, Dalgliesh, Caroline, Grimmel, Mona, Wechsberg, Oded, Vetro, Annalisa, Guerrini, Renzo, FitzPatrick, David, Poole, Rebecca L., Lebrun, Marine, Bayat, Allan, Grasshoff, Ute, Bertrand, Miriam, Witt, Dennis, Turnpenny, Peter D., Faundes, Víctor, Santa María, Lorena, Mendoza Fuentes, Carolina, Mabe, Paulina, Hussain, Shaun A., Mullegama, Sureni V., Torti, Erin, Oehl-Jaschkowitz, Barbara, Salmon, Lina Basel, Orenstein, Naama, Shahar, Noa Ruhrman, Hagari, Ofir, Bazak, Lily, Hoffjan, Sabine, Prada, Carlos E., Haack, Tobias, Elliott, David J.
Superior Title: In Genetics in Medicine April 2023 25(4)
Authors: Biesalski, Anne-SophieAff1, IDs0041502110841x_cor1, Hoffjan, SabineAff2, Aff4, Schneider, Ruth, Nguyen, Huu PhucAff2, Aff4, Dekomien, GabrieleAff2, Aff4, Lücke, ThomasAff3, Aff4, Schneider-Gold, Christiane, Matusche, Britta, Gold, Ralf, Ayzenberg, IlyaAff1, Aff5
Superior Title: Journal of Neurology. 269(4):2206-2209
Authors: Erbe, Leoni S., Hoffjan, Sabine (PD Dr. med.), Janßen, Sören, Kneifel, Moritz, Krause, Karsten (Dr. med.), Gerding, Wanda Maria (Dr.), Döring, Kristina (Dr. rer. nat.), Güttsches, Anne-Katrin (Dr. med.), Roos, Andreas (Dr. rer. nat.), Buena Atienza, Elena, Gross, Caspar, Lücke, Thomas (Prof. Dr. med.), Nguyen, Huu Phuc (Prof. Dr. med.), Vorgerd, Matthias (Prof. Dr. med.), Köhler, Cornelia (Dr.)
Subject Terms: ddc:610
File Description: application/pdf
Relation: https://hss-opus.ub.ruhr-uni-bochum.de/opus4/frontdoor/index/index/docId/11066; urn:nbn:de:hbz:294-110667; https://nbn-resolving.org/urn:nbn:de:hbz:294-110667; https://hss-opus.ub.ruhr-uni-bochum.de/opus4/files/11066/HoffjanSabine28092023.pdf
Availability:
https://hss-opus.ub.ruhr-uni-bochum.de/opus4/frontdoor/index/index/docId/11066
https://nbn-resolving.org/urn:nbn:de:hbz:294-110667
https://hss-opus.ub.ruhr-uni-bochum.de/opus4/files/11066/HoffjanSabine28092023.pdf
Authors: Unger, Andreas (Dr.), Roos, Andreas (Dr. rer. nat.), Gangfuß, Andrea Luise (Dr. med.), Hentschel, Andreas (Dr. rer. nat.), Gläser, Dieter (Dr. biol. hum.), Krause, Karsten (Dr. med.), Döring, Kristina (Dr. rer. nat.), Schara, Ulrike (Prof. Dr. med.), Hoffjan, Sabine (PD Dr. med.), Vorgerd, Matthias (Prof. Dr. med.), Güttsches, Anne-Katrin (Dr. med.)
Subject Terms: ddc:610
File Description: application/pdf
Relation: https://hss-opus.ub.ruhr-uni-bochum.de/opus4/frontdoor/index/index/docId/10573; urn:nbn:de:hbz:294-105738; https://nbn-resolving.org/urn:nbn:de:hbz:294-105738; https://hss-opus.ub.ruhr-uni-bochum.de/opus4/files/10573/GuettschesAnneKatrin06042023.pdf
Availability:
https://hss-opus.ub.ruhr-uni-bochum.de/opus4/frontdoor/index/index/docId/10573
https://nbn-resolving.org/urn:nbn:de:hbz:294-105738
https://hss-opus.ub.ruhr-uni-bochum.de/opus4/files/10573/GuettschesAnneKatrin06042023.pdf
Authors: Unger, Andreas, Roos, Andreas, Gangfuß, Andrea, Hentschel, Andreas, Gläser, Dieter, Krause, Karsten, Doering, Kristina, Schara-Schmidt, Ulrike, Hoffjan, Sabine, Vorgerd, Matthias, Güttsches, Anne-Katrin
Superior Title: Int J Mol Sci
Subject Terms: Article
Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10095373/; http://dx.doi.org/10.3390/ijms24076808
Authors: Thiels, Charlotte, Lücke, Thomas, Rothoeft, Tobias, Lukas, Carsten, Nguyen, Huu P., von Kleist-Retzow, Juergen-Christoph, Prokisch, Holger, Grimmel, Mona, Haack, Tobias B., Hoffjan, Sabine
Superior Title: Neuropediatrics; Apr2024, Vol. 55 Issue 2, p140-145, 6p
Authors: Hoffjan, SabineAff2, Epplen, Jörg T.Aff2
Contributors: Berlit, Peter, editorAff1
Superior Title: Klinische Neurologie. :311-336
Authors: Pluta, Natalie, Hoffjan, Sabine, Zimmer, Frederic, Köhler, Cornelia, Lücke, Thomas, Mohr, Jennifer, Vorgerd, Matthias, Nguyen, Hoa Huu Phuc, Atlan, David, Wolf, Beat, Zaum, Ann-Kathrin, Rost, Simone
Subject Terms: ddc:610
File Description: application/pdf
Relation: https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/28812; urn:nbn:de:bvb:20-opus-288122; https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-288122; https://doi.org/10.3390/genes13101752; https://opus.bibliothek.uni-wuerzburg.de/files/28812/genes-13-01752.pdf
Authors: Al-Jawahiri, Reem, Foroutan, Aidin, Kerkhof, Jennifer, McConkey, Haley, Levy, Michael, Haghshenas, Sadegheh, Rooney, Kathleen, Turner, Jasmin, Shears, Debbie, Holder, Muriel, Lefroy, Henrietta, Castle, Bruce, Reis, Linda M., Semina, V. Elena, Lachlan, Katherine, Chandler, Kate, Wright, Thomas, Clayton-Smith, Jill, Hug, Franziska Phan, Pitteloud, Nelly, Bartoloni, Lucia, Hoffjan, Sabine, Park, Soo-Mi, Thankamony, Ajay, Lees, Melissa, Wakeling, Emma, Naik, Swati, Hanker, Britta, Girisha, Katta M., Agolini, Emanuele, Giuseppe, Zampino, Alban, Ziegler, Tessarech, Marine, Keren, Ziegler Boris, Afenjar, Alexandra, Zweier, Christiane, Reis, Andre, Smol, Thomas, Tsurusaki, Yoshinori, Nobuhiko, Okamoto, Sekiguchi, Futoshi, Tsuchida, Naomi, Matsumoto, Naomichi, Kou, Ikuyo, Yonezawa, Yoshiro, Ikegawa, Shiro, Callewaert, Bert, Freeth, Megan, Kleinendorst, Lotte, Donaldson, Alan, Alders, Marielle, De Paepe, Anne, Sadikovic, Bekim, McNeill, Alisdair
Superior Title: GENETICS IN MEDICINE ; ISSN: 1098-3600 ; ISSN: 1530-0366
Subject Terms: Medicine and Health Sciences, MUTATIONS, EXPRESSION, FEATURES, Exome, Genome sequencing, Hypogonadism, Methylation, Neurodevelopmental, disorder, SOX11
File Description: application/pdf
Relation: https://biblio.ugent.be/publication/8761608; http://hdl.handle.net/1854/LU-8761608; http://dx.doi.org/10.1016/j.gim.2022.02.013; https://biblio.ugent.be/publication/8761608/file/8761619
Authors: Gregor, Anne, Meerbrei, Tanja, Gerstner, Thorsten, Toutain, Annick, Lynch, Sally Ann, Stals, Karen, Maxton, Caroline, Lemke, Johannes R, Bernat, John A, Bombei, Hannah M, Foulds, Nicola, Hunt, David, Kuechler, Alma, Beygo, Jasmin, Stöbe, Petra, Bouman, Arjan, Palomares-Bralo, Maria, Santos-Simarro, Fernando, Garcia-Minaur, Sixto, Pacio-Miguez, Marta, Popp, Bernt, Vasileiou, Georgia, Hebebrand, Moritz, Reis, André, Schuhmann, Sarah, Krumbiegel, Mandy, Brown, Natasha J, Sparber, Peter, Melikyan, Lyusya, Bessonova, Liudmila, Cherevatova, Tatiana, Sharkov, Artem, Shcherbakova, Natalia, Dabir, Tabib, Kini, Usha, Schwaibold, Eva M C, Haack, Tobias B, Bertoli, Marta, Hoffjan, Sabine, Falb, Ruth, Shinawi, Marwan, Sticht, Heinrich, Zweier, Christiane
Superior Title: Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; . (2022). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Human molecular genetics, 31(3), pp. 440-454. Oxford University Press 10.1093/hmg/ddab265
Subject Terms: 610 Medicine & health
File Description: application/pdf
Relation: https://boris.unibe.ch/162630/
Availability:
https://doi.org/10.1093/hmg/ddab265
https://boris.unibe.ch/162630/1/ddab265.pdf
https://boris.unibe.ch/162630/
Authors: Skowronek, Dariush, Pilz, Robin A., Bonde, Loisa, Schamuhn, Ole J., Feldmann, Janne L., Hoffjan, Sabine, Much, Christiane D., Felbor, Ute, Rath, Matthias
Superior Title: Int J Mol Sci
Subject Terms: Article
Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9779250/; http://dx.doi.org/10.3390/ijms232415639
Authors: Biesalski, Anne-Sophie, Hoffjan, Sabine (PD Dr. med.), Schneider, Ruth, Nguyen, Huu Phuc (Prof. Dr. med.), Dekomien, Gabriele (Dr. rer. nat.), Lücke, Thomas (Prof. Dr. med.), Schneider-Gold, Christiane (PD Dr. med.), Matusche, Britta (M.Sc.), Gold, Ralf (Prof. Dr. med.), Ayzenberg, Ilya (Prof. Dr. med.)
Subject Terms: ddc:610
File Description: application/pdf
Relation: https://hss-opus.ub.ruhr-uni-bochum.de/opus4/frontdoor/index/index/docId/10634; urn:nbn:de:hbz:294-106349; https://nbn-resolving.org/urn:nbn:de:hbz:294-106349; https://hss-opus.ub.ruhr-uni-bochum.de/opus4/files/10634/BiesalskiAnneSophie17102021.pdf
Availability:
https://hss-opus.ub.ruhr-uni-bochum.de/opus4/frontdoor/index/index/docId/10634
https://nbn-resolving.org/urn:nbn:de:hbz:294-106349
https://hss-opus.ub.ruhr-uni-bochum.de/opus4/files/10634/BiesalskiAnneSophie17102021.pdf
Authors: Biesalski, Anne-Sophie, Hoffjan, Sabine, Schneider, Ruth, Nguyen, Huu Phuc, Dekomien, Gabriele, Lücke, Thomas, Schneider-Gold, Christiane, Matusche, Britta, Gold, Ralf, Ayzenberg, Ilya
Superior Title: http://lobid.org/resources/99370671259506441#!, 269(4):2206-2209.
Subject Terms: Methylenetetrahydrofolate Reductase (NADPH2)/genetics [MeSH], Neurology, Methylenetetrahydrofolate Reductase (NADPH2)/deficiency [MeSH], Muscle Spasticity [MeSH], Humans [MeSH], Letter to the Editors, Neuroradiology, Blindness/etiology [MeSH], Neurosciences
Relation: https://repository.publisso.de/resource/frl:6450206; https://doi.org/10.1007/s00415-021-10841-x; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8940754/
Authors: Gregor, Anne, Meerbrei, Tanja, Gerstner, Thorsten, Toutain, Annick, Lynch, Sally Ann, Stals, Karen, Maxton, Caroline, Lemke, Johannes R, Bernat, John A, Bombei, Hannah M, Foulds, Nicola, Hunt, David, Kuechler, Alma, Beygo, Jasmin, Stöbe, Petra, Bouman, Arjan, Palomares-Bralo, Maria, Santos-Simarro, Fernando, Garcia-Minaur, Sixto, Pacio-Miguez, Marta, Popp, Bernt, Vasileiou, Georgia, Hebebrand, Moritz, Reis, André, Schuhmann, Sarah, Krumbiegel, Mandy, Brown, Natasha J, Sparber, Peter, Melikyan, Lyusya, Bessonova, Liudmila, Cherevatova, Tatiana, Sharkov, Artem, Shcherbakova, Natalia, Dabir, Tabib, Kini, Usha, Schwaibold, Eva M C, Haack, Tobias B, Bertoli, Marta, Hoffjan, Sabine, Falb, Ruth, Shinawi, Marwan, Sticht, Heinrich, Zweier, Christiane
Superior Title: Hum Mol Genet
Subject Terms: General Article
Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8825234/; http://www.ncbi.nlm.nih.gov/pubmed/34505148; http://dx.doi.org/10.1093/hmg/ddab265
Authors: Erbe, Leoni S.1 (AUTHOR) leoni.erbe@rub.de, Hoffjan, Sabine1,2 (AUTHOR) cornelia.koehler@kklbo.de, Janßen, Sören3 (AUTHOR) soeren.janssen@rub.de, Kneifel, Moritz4 (AUTHOR) moritz.kneifel@rub.de, Krause, Karsten4 (AUTHOR) karsten.krause@ruhr-uni-bochum.de, Gerding, Wanda M.1 (AUTHOR) kristina.doering@rub.de, Döring, Kristina1 (AUTHOR) huu.nguyen-r7w@rub.de, Güttsches, Anne-Katrin4 (AUTHOR) anne.guettsches@ruhr-uni-bochum.de, Roos, Andreas4 (AUTHOR) andreas.roos@uk-essen.de, Buena Atienza, Elena5,6 (AUTHOR) elena.buena-atienza@med.uni-tuebingen.de, Gross, Caspar5,6 (AUTHOR) caspar.gross@med.uni-tuebingen.de, Lücke, Thomas2,3 (AUTHOR) thomas.luecke@rub.de, Nguyen, Hoa Huu Phuc1,2 (AUTHOR), Vorgerd, Matthias4 (AUTHOR) matthias.vorgerd@bergmannsheil.de, Köhler, Cornelia2,3 (AUTHOR)
Superior Title: International Journal of Molecular Sciences. Oct2023, Vol. 24 Issue 19, p14716. 16p.
Subject Terms: *DUCHENNE muscular dystrophy, *GENE mapping, *MUSCLE diseases, *EXOMES, *GENETIC variation, *GENETIC mutation, *GENES
Authors: Gambichler, Thilo1,2 (AUTHOR) t.gambichler@klinikum-bochum.de, Hoffjan, Sabine3 (AUTHOR), Nagel, Mato4 (AUTHOR), Terschlüsen, Meike5 (AUTHOR), Mansour, Rita5 (AUTHOR), Würfel, Lina5 (AUTHOR), Hoffmann, Klaus5 (AUTHOR), Susok, Laura5 (AUTHOR), Dickel, Heinrich5 (AUTHOR), Doerler, Martin2,6 (AUTHOR)
Superior Title: Clinical & Experimental Dermatology. Oct2023, Vol. 48 Issue 10, p1198-1201. 4p. 2 Color Photographs.
Subject Terms: *ASYMPTOMATIC patients
Authors: Gómez-Fernández, Paloma, Lopez de Lapuente Portilla, Aitzkoa, Astobiza, Ianire, Mena, Jorge, Urtasun, Andoni, Altmann, Vivian, Matesanz, Fuencisla, Otaegui, David, Urcelay, Elena, Antigüedad, Alfredo, Malhotra, Sunny, Montalban, Xavier, Castillo-Triviño, Tamara, Espino-Paisán, Laura, Aktas, Orhan, Buttmann, Mathias, Chan, Andrew, Fontaine, Bertrand, Gourraud, Pierre-Antoine, Hecker, Michael, Hoffjan, Sabine, Kubisch, Christian, Kümpfel, Tania, Luessi, Felix, Zettl, Uwe K., Zipp, Frauke, Alloza, Iraide, Comabella, Manuel, Lill, Christina M., Vandenbroeck, Koen
Subject Terms: ddc:610
File Description: application/pdf
Relation: https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/20076; urn:nbn:de:bvb:20-opus-200769; https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-200769; https://doi.org/10.3390/cells9010175; https://opus.bibliothek.uni-wuerzburg.de/files/20076/cells-09-00175.pdf
Authors: Spiegler, Stefanie, Rath, Matthias, Hoffjan, Sabine, Dammann, Philipp, Sure, Ulrich, Pagenstecher, Axel, Strom, Tim, Felbor, Ute
Superior Title: neurogenetics. :1-5
Authors: Ibisler, Aysegül, Ocklenburg, Sebastian, Stemmler, Susanne, Arning, Larissa, Epplen, Jörg T., Saft, Carsten, Hoffjan, Sabine
Superior Title: Journal of Genetic Counseling. October 2017 26(5):1029-1040