부산대학교 도서관

Bearden, I.; Buchakchiev, V.; Buhl, A.; Dufke, L.; Isidori, T.; Jia, S.; Kozhuharov, V.; Loizides, C.; Muller, H.; Pfeiffer, D.; Rauch, M.; Rusu, A.; Simeonov, R.

Aehle, M.; Alme, J.; Arata, C.; Arsene, I.; Bearden, I.; Bodova, T.; Borshchov, V.; Bourrion, O.; Bregant, M.; Brink, A. van den; Buchakchiev, V.; Buhl, A.; Chujo, T.; Dufke, L.; Eikeland, V.; Fasel, M.; Gauger, N.; Gautam, A.; Ghimouz, A.; Goto, Y.; Guernane, R.; Hachiya, T.; Hassan, H.; He, L.; Helstrup, H.; Huhta, L.; Inaba, M.; Inukai, T.; Isidori, T.; Jonas, F.; Kawaguchi, T.; Keidel, R.; Kim, M.; Kozhuharov, V.; Kumaoka, T.; Kusch, L.; Loizides, C.; Melikyan, Y.; Miake, Y.; Minafra, N.; Nystrand, J.; Novitzky, N.; Øekland, T.; Oyama, K.; Park, H.; Park, J.; Pascal, I.; Peitzmann, T.; Protsenko, M.; Räsänen, S. S.; Rarbi, F.; Rauch, M.; Rehman, A.; Richter, M.; Röhrich, D.; Røed, K.; Rusu, A.; Rytkönen, H.; Sakai, S.; Sato, K.; Schilling, A.; Shimizu, S.; Shimomura, M.; Simeonov, R.; Solheim, E.; Sugitate, T.; Tambave, G.; Takaki, D. Tapia; Tourres, D.; Tymchuk, I.; Yi, J.; Yin, Z.; Ullaland, K.; Yang, S.; Yokoo, T.; Zhou, D.; Zillien, S.

JINST 19 P07006 (2024)

Erdlenbruch, Friedrich; Thieme, Andreas; van Gaalen, Judith; Ganos, Christos; Kang, Jun-Suk; Grobe-Einsler, Marcus; Giordano, Ilaria; Beijer, Danique ; Mengel, David ; Önder, Demet ; Wilke, Carlo ; Traschütz, Andreas ; Faber, Jennifer ; Timmann, Dagmar ; Boesch, Sylvia ; Vielhaber, Stefan ; Klopstock, Thomas ; van de Warrenburg, Bart P. ; Silvestri, Gabriella ; Kamm, Christoph ; Wedding, Iselin Marie ; Fleszar, Zofia ; Harmuth, Florian ; Dufke, Claudia ; Brais, Bernard ; Rieß, Olaf ; Schöls, Ludger ; Haack, Tobias ; Züchner, Stephan ; Pellerin, David ; Klockgether, Thomas ; Synofzik, Matthis

In eBioMedicine May 2025 115

Witt D; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. Electronic address: dennis.witt@med.uni-tuebingen.de.; Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Stäbler A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Menden B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Ruisinger L; Klinikum Sindelfingen-Böblingen Kliniken Böblingen, Böblingen, Germany.; Bosse K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Universitäts-Frauenklinik, University of Tübingen, Tübingen, Germany.; Gruber I; Universitäts-Frauenklinik, University of Tübingen, Tübingen, Germany.; Hartkopf A; Universitäts-Frauenklinik, University of Tübingen, Tübingen, Germany.; Gauß S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Casadei N; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; NGS Competence Centre Tübingen (NCCT), University of Tübingen, Tübingen, Germany.; Atienza EB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Mehnert K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Witt J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Gross C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Schütz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Schroeder C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; NGS Competence Centre Tübingen (NCCT), University of Tübingen, Tübingen, Germany.; Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Faust U; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9213011 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-3080 (Electronic) Linking ISSN: 09609776 NLM ISO Abbreviation: Breast Subsets: MEDLINE

Klein Haneveld MJ; Amsterdam UMC, University of Amsterdam, Emma Children's Hospital, Amsterdam, the Netherlands.; Robert Debré University Hospital, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Clinical Genetics Department, Paris, France.; Amsterdam Reproduction and Development Research Institute, Amsterdam, the Netherlands.; Amsterdam Public Health Research Institute, Amsterdam, the Netherlands.; Świeczkowska K; Polish Association for Persons with Intellectual Disability, Gdánsk, Poland.; Grybek T; Doctoral School of Humanities and Social Sciences of University of Gdańsk, Gdańsk, Poland.; Foundation of Borys the Hero, Gdańsk, Poland.; Labunets K; Medical University of Gdańsk, Department of Internal and Pediatric Nursing, Gdańsk, Poland.; van Amelsvoort TAMJ; Department of Psychiatry and Psychology, Maastricht University, Maastricht, the Netherlands.; Bedeschi MF; Medical Genetics Unit, Fondazione IRCCS ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Behan C; Trinity College Dublin (The University of Dublin), Academic Unit of Neurology, School of Medicine, Dublin, Ireland.; Neurology Department, St. James's Hospital, Dublin, Ireland.; Trinity College Dublin (The University of Dublin), FutureNeuro Research Ireland Centre, School of Medicine, Dublin, Ireland.; Dufke A; MVZ Genetikum GmbH, Center for Human Genetics, Stuttgart, Germany.; Dupont J; Serviço de Genética, Unidade Local de Saúde Santa Maria, Centro Acadêmico de Medicina de Lisboa, Lisbon, Portugal.; Gaasterland CMW; Amsterdam UMC, University of Amsterdam, Emma Children's Hospital, Amsterdam, the Netherlands.; Robert Debré University Hospital, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Clinical Genetics Department, Paris, France.; Knowledge Institute of the Dutch Federation of Medical Specialists, Utrecht, the Netherlands.; Garavelli L; Azienda USL-IRCCS di Reggio Emilia, Medical Genetics Unit, Department of Mother and Child, Reggio Emilia, Italy.; Helverschou SB; NevSom Norwegian Centre of Expertise for Neurodevelopmental Disorders and Hypersomnias, Oslo University Hospital, Oslo, Norway.; McAnallen S; Department of Nephrology, St. James's Hospital, Dublin, Ireland.; Milska-Musa KA; Medical University of Gdańsk, Division of Quality of Life Research, Department of Psychology, Faculty of Health Sciences With Institute of Maritime and Tropical Medicine, Gdańsk, Poland.; van Staa A; Research Centre Innovations in Care, Rotterdam University of Applied Sciences, Rotterdam, the Netherlands.; Streață I; Regional Center for Medical Genetics, Craiova, Romania.; University of Medicine and Pharmacy From Craiova, Craiova, Romania.; Stumpel CTRM; Department of Clinical Genetics, Maastricht University, Maastricht, the Netherlands.; Tamburrino F; Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Vasseghi M; Trinity College Dublin (The University of Dublin), Academic Unit of Neurology, School of Medicine, Dublin, Ireland.; TSC Ireland, Carmichael House, Dublin, Ireland.; Vyshka K; Robert Debré University Hospital, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Clinical Genetics Department, Paris, France.; Wierzba JM; Medical University of Gdańsk, Department of Internal and Pediatric Nursing, Gdańsk, Poland.; van Eeghen AM; Amsterdam UMC, University of Amsterdam, Emma Children's Hospital, Amsterdam, the Netherlands.; Robert Debré University Hospital, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Clinical Genetics Department, Paris, France.; Amsterdam Reproduction and Development Research Institute, Amsterdam, the Netherlands.; Amsterdam Public Health Research Institute, Amsterdam, the Netherlands.; Advisium, 's Heeren Loo Zorggroep, Amersfoort, the Netherlands.

Publisher: Blackwell Scientific Publications on behalf of the Royal Society for Mentally Handicapped Children and Adults Country of Publication: England NLM ID: 9206090 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2788 (Electronic) Linking ISSN: 09642633 NLM ISO Abbreviation: J Intellect Disabil Res Subsets: MEDLINE

Rots D; Jakub TE; Keung C; Jackson A; Banka S; Pfundt R; de Vries BBA; van Jaarsveld RH; Hopman SMJ; van Binsbergen E; Valenzuela I; Hempel M; Bierhals T; Kortüm F; Lecoquierre F; Goldenberg A; Hertz JM; Andersen CB; Kibæk M; Prijoles EJ; Stevenson RE; Everman DB; Patterson WG; Meng L; Gijavanekar C; De Dios K; Lakhani S; Levy T; Wagner M; Wieczorek D; Benke PJ; Lopez Garcia MS; Perrier R; Sousa SB; Almeida PM; Simões MJ; Isidor B; Deb W; Schmanski AA; Abdul-Rahman O; Philippe C; Bruel AL; Faivre L; Vitobello A; Thauvin C; Smits JJ; Garavelli L; Caraffi SG; Peluso F; Davis-Keppen L; Platt D; Royer E; Leeuwen L; Sinnema M; Stegmann APA; Stumpel CTRM; Tiller GE; Bosch DGM; Potgieter ST; Joss S; Splitt M; Holden S; Prapa M; Foulds N; Douzgou S; Puura K; Waltes R; Chiocchetti AG; Freitag CM; Satterstrom FK; De Rubeis S; Buxbaum J; Gelb BD; Branko A; Kushima I; Howe J; Scherer SW; Arado A; Baldo C; Patat O; Bénédicte D; Lopergolo D; Santorelli FM; Haack TB; Dufke A; Bertrand M; Falb RJ; Rieß A; Krieg P; Spranger S; Bedeschi MF; Iascone M; Josephi-Taylor S; Roscioli T; Buckley MF; Liebelt J; Dagli AI; Aten E; Hurst ACE; Hicks A; Suri M; Aliu E; Naik S; Sidlow R; Coursimault J; Nicolas G; Küpper H; Petit F; Ibrahim V; Top D; Di Cara F; Louie RJ; Stolerman E; Brunner HG; Vissers LELM; Kramer JM; Kleefstra T

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: In Process; MEDLINE

Bobby K. Brar; Marisa Gilstrop Thompson; Neeta L. Vora; Kelly Gilmore; Karin Blakemore; Kristen A. Miller; Jessica Giordano; Andreas Dufke; Beatrix Wong; Samantha Stover; Billie Lianoglou; Ignatia Van den Veyver; Esther Dempsey; Mara Rosner; Karen Chong; David Chitayat; Teresa N. Sparks; Mary E. Norton; Ronald Wapner; Kristin Baranano; Angie C. Jelin

Prenatal Diagnosis. 42:1686-1693

Ferdinand Dhombres; Patricia Morgan; Bimal P. Chaudhari; Isabel Filges; Teresa N. Sparks; Pablo Lapunzina; Tony Roscioli; Umber Agarwal; Shagun Aggarwal; Claire Bénéteau; Pilar Cacheiro; Leigh Carmody; Sophie Collardeau‐Frachon; Esther Dempsey; Andreas Dufke; Michael H. Duyzend; Mirna el Ghosh; Jessica L. Giordano; Ragnhild Glad; Ieva Grīnfelde; Dominic Gabriel Iliescu; Markus S. Ladewig; Monica Muñoz-Torres; Marzia Pollazzon; Francesca Clementina Radio; Carlota Rodó; Raquel Gouveia Silva; Damian Smedley; Jagadish Chandrabose Sundaramurthi; Sabrina Toro; Irene Valenzuela; Nicole Vasilevsky; Ronald J. Wapner; Roni Zemet; Melissa Haendel; Peter N. Robinson

Am J Med Genet C Semin Med Genet
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
American Journal of Medical Genetics Part C Seminars in Medical Genetics, vol 190, iss 2

Bo Dalsgaard; Pietro Kiyoshi Maruyama; Jesper Sonne; Katrine Hansen; Thais B. Zanata; Stefan Abrahamczyk; Ruben Alarcón; Andréa C. Araujo; Francielle P. Araújo; Silvana Buzato; Edgar Chávez‐González; Aline G. Coelho; Peter A. Cotton; Román Díaz‐Valenzuela; Maria F. Dufke; Paula L. Enríquez; Manoel Martins Dias Filho; Erich Fischer; Glauco Kohler; Carlos Lara; Flor Maria G. Las‐Casas; Liliana Rosero Lasprilla; Adriana O. Machado; Caio G. Machado; María A. Maglianesi; Tiago S. Malucelli; Oscar H. Marín‐Gómez; Vanessa Martínez‐García; Severino Mendes de Azevedo‐Júnior; Edvaldo Nunes da Silva Neto; Paulo E. Oliveira; Juan Francisco Ornelas; Raul Ortiz‐Pulido; Ruth Partida‐Lara; Blanca Itzel Patiño‐González; Steffani Najara de Pinho Queiroz; Mónica B. Ramírez‐Burbano; André Rodrigo Rech; Márcia A. Rocca; Licléia C. Rodrigues; Ana M. Rui; Ivan Sazima; Marlies Sazima; Benno I. Simmons; Boris A. Tinoco; Isabela G. Varassin; Marcelo F. Vasconcelos; Jeferson Vizentin‐Bugoni; Stella Watts; Jonathan D. Kennedy; Carsten Rahbek; Matthias Schleuning; Ana M. Martín González

Dalsgaard, B, Maruyama, P K, Sonne, J, Hansen, K, Zanata, T B, Abrahamczyk, S, Alarcon, R, Araujo, A C, Araujo, F P, Buzato, S, Chavez-Gonzalez, E, Coelho, A G, Cotton, P A, Diaz-Valenzuela, R, Dufke, M F, Enriquez, P L, Martins Dias Filho, M, Fischer, E, Kohler, G, Lara, C, Las-Casas, F M G, Rosero Lasprilla, L, Machado, A O, Machado, C G, Maglianesi, M A, Malucelli, T S, Marin-Gomez, O H, Martinez-Garcia, V, Mendes de Azevedo-Junior, S, da Silva Neto, E N, Oliveira, P E, Ornelas, J F, Ortiz-Pulido, R, Partida-Lara, R, Patino-Gonzalez, B I, Najara de Pinho Queiroz, S, Ramirez-Burbano, M B, Rodrigo Rech, A, Rocca, M A, Rodrigues, L C, Rui, A M, Sazima, I, Sazima, M, Simmons, B I, Tinoco, B A, Varassin, I G, Vasconcelos, M F, Vizentin-Bugoni, J, Watts, S, Kennedy, J D, Rahbek, C, Schleuning, M & Martin Gonzalez, A M 2021, ' The influence of biogeographical and evolutionary histories on morphological trait-matching and resource specialization in mutualistic hummingbird-plant networks ', Functional Ecology, vol. 35, no. 5, pp. 1120-1133 . https://doi.org/10.1111/1365-2435.13784
Dalsgaard, B, Maruyama, P K, Sonne, J, Hansen, K, Zanata, T B, Abrahamczyk, S, Alarcón, R, Araujo, A C, Araújo, F P, Buzato, S, Chávez-González, E, Coelho, A G, Cotton, P A, Díaz-Valenzuela, R, Dufke, M F, Enríquez, P L, Martins Dias Filho, M, Fischer, E, Kohler, G, Lara, C, Las-Casas, F M G, Rosero Lasprilla, L, Machado, A O, Machado, C G, Maglianesi, M A, Malucelli, T S, Marín-Gómez, O H, Martínez-García, V, Mendes de Azevedo-Júnior, S, da Silva Neto, E N, Oliveira, P E, Ornelas, J F, Ortiz-Pulido, R, Partida-Lara, R, Patiño-González, B I, Najara de Pinho Queiroz, S, Ramírez-Burbano, M B, Rodrigo Rech, A, Rocca, M A, Rodrigues, L C, Rui, A M, Sazima, I, Sazima, M, Simmons, B I, Tinoco, B A, Varassin, I G, Vasconcelos, M F, Vizentin-Bugoni, J, Watts, S, Kennedy, J D, Rahbek, C, Schleuning, M & Martín González, A M 2021, ' The influence of biogeographical and evolutionary histories on morphological trait-matching and resource specialization in mutualistic hummingbird–plant networks ', Functional Ecology, vol. 35, no. 5, pp. 1120-1133 . https://doi.org/10.1111/1365-2435.13784

Rots, D.; Jakub, T.E.; Keung, C.; Lisenka, V.E.L.M.; Banka, S.; Pfundt, R.; Vries, B.B.A. de; Jaarsveld, R.H. van; Hopman, S.M.J.; Binsbergen, E. van; Valenzuela, I.; Hempel, M.; Bierhals, T.; Kortüm, F.; Lecoquierre, F.; Goldenberg, A.; Hertz, J.M.; Andersen, C.B.; Kibaek, M.; Prijoles, E.J.; Stevenson, R.E.; Everman, D.B.; Patterson, W.G.; Meng, L.Y.; Gijavanekar, C.; Dios, K. de; Lakhani, S.; Levy, T.; Wagner, M.; Wieczorek, D.; Benke, P.J.; Garcia, M.S.L.; Perrier, R.; Sousa, S.B.; Almeida, P.M.; Simoes, M.J.; Isidor, B.; Deb, W.; Schmanski, A.A.; Abdul-Rahman, O.; Philippe, C.; Bruel, A.L.; Faivre, L.; Vitobello, A.; Thauvin, C.; Smits, J.J.; Garavelli, L.; Caraffi, S.G.; Peluso, F.; Davis-Keppen, L.; Platt, D.; Royer, E.; Leeuwen, L.; Sinnema, M.; Stegmann, A.P.A.; Stumpel, C.T.R.M.; Tiller, G.E.; Bosch, D.S.D.L.G.M.; Potgieter, S.T.; Joss, S.; Splitt, M.; Holden, S.; Prapa, M.; Foulds, N.; Douzgou, S.; Puura, K.; Waltes, R.; Chiocchetti, A.G.; Freitag, C.M.; Satterstrom, F.K.; Rubeis, S. de; Buxbaum, J.; Gelb, B.D.; Branko, A.; Kushima, I.; Howe, J.; Scherer, S.W.; Arado, A.; Baldo, C.; Patat, O.; Benedicte, D.; Lopergolo, D.; Santorelli, F.M.; Haack, T.B.; Dufke, A.; Bertrand, M.; Falb, R.J.; Riess, A.; Krieg, P.; Spranger, S.; Bedeschi, M.F.; Iascone, M.; Josephi-Taylor, S.; Roscioli, T.; Buckley, M.F.; Liebelt, J.; Dagli, A.I.; Aten, E.; Hurst, A.C.E.; Hicks, A.; Suri, M.; Aliu, E.; Naik, S.; Sidlow, R.; Coursimault, J.; Nicolas, G.; Küpper, H.; Petit, F.; Ibrahim, V.; Top, D.; Cara, F. di; Louie, R.J.; Stolerman, E.; Brunner, H.G.; Vissers, L.E.L.M.; Kramer, J.M.; Kleefstra, T.; Genomics England Res Consortium

Marlous C.M. van der Weijden; Dayana Rodriguez‐Contreras; Cathérine C.S. Delnooz; Brooks G. Robinson; Alec F. Condon; Michelle L. Kielhold; Gilles N. Stormezand; Kai Yu Ma; Claudia Dufke; John T. Williams; Kim A. Neve; Marina A.J. Tijssen; Dineke S. Verbeek

Mov Disord

I. Bearden; V. Buchakchiev; A. Buhl; L. Dufke; T. Isidori; S. Jia; V. Kozhuharov; C. Loizides; H. Muller; D. Pfeiffer; M. Rauch; A. Rusu; R. Simeonov

Bearden, I, Buchakchiev, V, Buhl, A, Dufke, L, Isidori, T, Jia, S, Kozhuharov, V, Loizides, C, Muller, H, Pfeiffer, D, Rauch, M, Rusu, A & Simeonov, R 2024, ' Application of the VMM ASIC for SiPM-based calorimetry ', Journal of Instrumentation, vol. 19, no. 10, P10009 . https://doi.org/10.1088/1748-0221/19/10/P10009
P10009
Journal of Instrumentation (JINST)

Caldi Gomes L; Technical University of Munich, School of Medicine, rechts der Isar Hospital, Clinical Department of Neurology, Munich, Germany.; Hänzelmann S; III. Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Center for Biomedical AI, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Institute of Medical Systems Biology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hausmann F; Center for Biomedical AI, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Institute of Medical Systems Biology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Khatri R; Center for Biomedical AI, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Institute of Medical Systems Biology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Oller S; Center for Biomedical AI, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Institute of Medical Systems Biology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Parvaz M; Technical University of Munich, School of Medicine, rechts der Isar Hospital, Clinical Department of Neurology, Munich, Germany.; Tzeplaeff L; Technical University of Munich, School of Medicine, rechts der Isar Hospital, Clinical Department of Neurology, Munich, Germany.; Pasetto L; Research Center for ALS, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy.; Gebelin M; Laboratoire de Spectrométrie de Masse Bio-Organique, Université de Strasbourg, Infrastructure Nationale de Protéomique, Strasbourg, France.; Ebbing M; Center for Biomedical AI, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Institute of Medical Systems Biology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Holzapfel C; Center for Biomedical AI, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Institute of Medical Systems Biology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Columbro SF; Research Center for ALS, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy.; Scozzari S; Research Center for ALS, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy.; Knöferle J; Technical University of Munich, School of Medicine, rechts der Isar Hospital, Clinical Department of Neurology, Munich, Germany.; Cordts I; Technical University of Munich, School of Medicine, rechts der Isar Hospital, Clinical Department of Neurology, Munich, Germany.; Demleitner AF; Technical University of Munich, School of Medicine, rechts der Isar Hospital, Clinical Department of Neurology, Munich, Germany.; Deschauer M; Technical University of Munich, School of Medicine, rechts der Isar Hospital, Clinical Department of Neurology, Munich, Germany.; Dufke C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Zhou Q; German Center for Neurodegenerative Diseases (DZNE), München, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; Zelina P; Department of Translational Neuroscience, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Sudria-Lopez E; Department of Translational Neuroscience, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, Tübingen, Germany.; Streb S; Functional Genomics Center Zürich, ETH Zürich and University of Zürich, Zürich, Switzerland.; Kuzma-Kozakiewicz M; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.; Edbauer D; German Center for Neurodegenerative Diseases (DZNE), München, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; Pasterkamp RJ; Department of Translational Neuroscience, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Laczko E; Functional Genomics Center Zürich, ETH Zürich and University of Zürich, Zürich, Switzerland.; Rehrauer H; Functional Genomics Center Zürich, ETH Zürich and University of Zürich, Zürich, Switzerland.; Schlapbach R; Functional Genomics Center Zürich, ETH Zürich and University of Zürich, Zürich, Switzerland.; Carapito C; Laboratoire de Spectrométrie de Masse Bio-Organique, Université de Strasbourg, Infrastructure Nationale de Protéomique, Strasbourg, France.; Bonetto V; Research Center for ALS, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy.; Bonn S; Center for Biomedical AI, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. stefan.bonn@zmnh.uni-hamburg.de.; Institute of Medical Systems Biology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. stefan.bonn@zmnh.uni-hamburg.de.; Lingor P; Technical University of Munich, School of Medicine, rechts der Isar Hospital, Clinical Department of Neurology, Munich, Germany. paul.lingor@tum.de.; German Center for Neurodegenerative Diseases (DZNE), München, Germany. paul.lingor@tum.de.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany. paul.lingor@tum.de.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

D Witt; K Bosse; L Ruisinger; J Park; U Faust; A Stäbler; I Gruber; A Hartkopf; A Dufke; O Rieß; C Schroeder

Senologie - Zeitschrift für Mammadiagnostik und -therapie.

Aida Telegrafi; Bryn D. Webb; Sarah M. Robbins; Carlos E. Speck‐Martins; David FitzPatrick; Leah Fleming; Richard Redett; Andreas Dufke; Gunnar Houge; Jeske J. T. van Harssel; Alain Verloes; Angela Robles; Irini Manoli; Elizabeth C. Engle; Ethylin W. Jabs; David Valle; John Carey; Julie E. Hoover‐Fong; Nara L. M. Sobreira

Telegrafi, A, Webb, B D, Robbins, S M, Speck-Martins, C E, FitzPatrick, D, Fleming, L, Redett, R, Dufke, A, Houge, G, van Harssel, J J T, Verloes, A, Robles, A, Manoli, I, Engle, E C, Jabs, E W, Valle, D, Carey, J & Hoover-Fong, J E & Sobreira, N L M 2017, ' Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome ', American Journal of Medical Genetics Part A, vol. 173, no. 10 . https://doi.org/10.1002/ajmg.a.38375

Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. Olaf.riess@med.uni-tuebingen.de.; NGS Competence Center Tübingen, University of Tübingen, Tübingen, Germany. Olaf.riess@med.uni-tuebingen.de.; Center for Rare Diseases Tübingen, University of Tübingen, Tübingen, Germany. Olaf.riess@med.uni-tuebingen.de.; Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Menden B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Liebmann A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Witt D; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Casadei N; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; NGS Competence Center Tübingen, University of Tübingen, Tübingen, Germany.; Admard J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Schütz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; NGS Competence Center Tübingen, University of Tübingen, Tübingen, Germany.; Institute for Bioinformatics and Medical Informatics (IBMI), University of Tübingen, Tübingen, Germany.; Taylor S; Illumina, Inc, San Diego, CA, USA.; Schaffer S; Illumina, Inc, San Diego, CA, USA.; Schroeder C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases Tübingen, University of Tübingen, Tübingen, Germany.; Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases Tübingen, University of Tübingen, Tübingen, Germany.; Haack T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases Tübingen, University of Tübingen, Tübingen, Germany.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Thompson, Marisa Gilstrop; Giordano, Jessica L.; Dufke, Andreas; Wong, Beatrix; Stover, Samantha; Lianoglou, Billie R.; Van den Veyver, Ignatia B.; Norton, Mary E.; Wapner, Ronald J.; Jelin, Angie C.

American Journal of Obstetrics and Gynecology. 224(2):S190-S191

Hu, H.; Haas, S. A.; Chelly, J.; Van Esch, H.; Raynaud, M.; de Brouwer, A. P. M.; Weinert, S.; Froyen, G.; Frints, S. G. M.; Laumonnier, F.; Zemojtel, T.; Love, M. I.; Richard, H.; Emde, A-K; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; Wissink-Lindhout, W.; Lebrun, N.; Castelnau, L.; Rucci, J.; Montjean, R.; Dorseuil, O.; Billuart, P.; Stuhlmann, T.; Shaw, M.; Corbett, M. A.; Gardner, A.; Willis-Owen, S.; Tan, C.; Friend, K. L.; Belet, S.; van Roozendaal, K. E. P.; Jimenez-Pocquet, M.; Moizard, M-P; Ronce, N.; Sun, R.; O'Keeffe, S.; Chenna, R.; Van Boemmel, A.; Goeke, J.; Hackett, A.; Field, M.; Christie, L.; Boyle, J.; Haan, E.; Nelson, J.; Turner, G.; Baynam, G.; Gillessen-Kaesbach, G.; Mueller, U.; Steinberger, D.; Budny, B.; Badura-Stronka, M.; Latos-Bielenska, A.; Ousager, L. B.; Wieacker, P.; Criado, G. Rodriguez; Bondeson, Marie-Louise; Annerén, Göran; Dufke, A.; Cohen, M.; Van Maldergem, L.; Vincent-Delorme, C.; Echenne, B.; Simon-Bouy, B.; Kleefstra, T.; Willemsen, M.; Fryns, J-P; Devriendt, K.; Ullmann, R.; Vingron, M.; Wrogemann, K.; Wienker, T. F.; Tzschach, A.; van Bokhoven, H.; Gecz, J.; Jentsch, T. J.; Chen, W.; Ropers, H-H; Kalscheuer, V. M.

Molecular Psychiatry. 21(1):133-148

Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Dufke C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Fleszar Z; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; Schlotterbek M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; Buena-Atienza E; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; NGS Competence Center Tübingen, 72076 Tübingen, Germany.; Stühn LG; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Gross C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, 72076 Tübingen, Germany.; Schöls L; Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, 72076 Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.; Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, 72076 Tübingen, Germany.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, 72076 Tübingen, Germany.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Zweier, Christiane; Thiel, Christian T.; Dufke, Andreas; Crow, Yanick J.; Meinecke, Peter; Suri, Mohnish; La-Mello, Sirpa; Beemer, Frits; Bernasconi, Sergio; Bianchi, Paolo; Bier, Andrea; Devriendt, Koen; Dimitrov, Boyan; Firth, Helen; Gallagher, Renata C.; Garavelli, Livia; Gillessen-Kaesbach, Gabriele; Hudgins, Louanne; Kaariainen, Helena; Karstens, Susan; Krantz, Ian; Mannhardt, Anca; Medne, Livija; Mucke, Jurgen; Kibaek, Maria; Krogh, Lotte N.; Peippo, Maarit; Rittinger, Olaf; Schulz, Solveig; Schelley, Susan L.; Temple, I Karen; Dennis, Nick R.; Van der Knaap, Marjo S.; Wheeler, Patricia; Yerushalmi, Baruch; Zenker, Martin; Seidel, Heide; Lachmeijer, A.; Prescott, Trine; Kraus, Cornelia; Lowry, R. Brian; Rauch, Anita

Zweier, C, Thiel, C T, Dufke, A, Crow, Y J, Meinecke, P, Suri, M, Ala-Mello, S, Beemer, F, Bernasconi, S, Bianchi, P, Bier, A, Devriendt, K, Dimitrov, B, Firth, H, Gallagher, R C, Garavelli, L, Gillessen-Kaesbach, G, Hudgins, L, Kääriäinen, H, Karstens, S, Krantz, I, Mannhardt, A, Medne, L, Mücke, J, Kibaek, M, Krogh, L N, Peippo, M, Rittinger, O, Schulz, S, Schelley, S L, Temple, I K, Dennis, N R, Van Der Knaap, M S, Wheeler, P, Yerushalmi, B, Zenker, M, Seidel, H, Lachmeijer, A, Prescott, T, Kraus, C, Lowry, R B & Rauch, A 2005, 'Clinical and mutational spectrum of Mowat-Wilson Syndrome', European Journal of Medical Genetics, vol. 48, no. 2, pp. 97-111. https://doi.org/10.1016/j.ejmg.2005.01.003
Zweier, C, Thiel, C T, Dufke, A, Crow, Y J, Meinecke, P, Suri, M, Ala-Mello, S, Beemer, F, Bernasconi, S, Bianchi, P, Bier, A, Devriendt, K, Dimitrov, B, Firth, H, Gallagher, R C, Garavelli, L, Gillessen-Kaesbach, G, Hudgins, L, Kääriäinen, H, Karstens, S, Krantz, I, Mannhardt, A, Medne, L, Mücke, J, Kibaek, M, Krogh, L N, Peippo, M, Rittinger, O, Schulz, S, Schelley, S L, Temple, I K, Dennis, N R, Van Der Knaap, M S, Wheeler, P, Yerushalmi, B, Zenker, M, Seidel, H, Lachmeijer, A, Prescott, T, Kraus, C, Lowry, R B & Rauch, A 2005, ' Clinical and mutational spectrum of Mowat-Wilson Syndrome ', European journal of medical genetics, vol. 48, no. 2, pp. 97-111 . https://doi.org/10.1016/j.ejmg.2005.01.003