학술논문
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'학술논문'
에서 검색결과 416건 | 목록
1~20
Academic Journal
Plant Ecology and Evolution, 2022 Jan 01. 155(3), 363-378.
Academic Journal
Asif, Maria ; Khayyat, Arwa Ishaq A. ; Alawbathani, Salem ; Abdullah, Uzma ; Sanner, Anne ; Georgomanolis, Theodoros ; Haasters, Judith ; Becker, Kerstin ; Budde, Birgit ; Becker, Christian ; Thiele, Holger ; Baig, Shahid M. ; Isidoro-García, María ; Winter, Dominic ; Pogoda, Hans-Martin ; Muhammad, Sajjad ; Hammerschmidt, Matthias ; Kraft, Florian ; Kurth, Ingo ; Martin, Hilario Gomez ; Wagner, Matias ; Nürnberg, Peter ; Hussain, Muhammad Sajid
In Genetics in Medicine July 2024 26(7)
Academic Journal
Alidousty, Christina ; Becker, Arvid ; Binot, Elke ; Hillmer, Axel M. ; Merkelbach-Bruse, Sabine ; Budde, Birgit ; Bäßmann, Ingelore ; Rappl, Gunter ; Wolf, Jürgen ; Eich, Marie-Lisa ; Noh, Ka-Won ; Buettner, Reinhard ; Schultheis, Anne Maria
In Gene 15 February 2024 895
Academic Journal
Erichsen, Eva Ortvald; Budde, Katharina Birgit; Sagheb-Talebi, Khosro; Bagnoli, Francesca; Vendramin, Giovanni Giuseppe; Hansen, Ole Kim
Diversity and Distributions, 2018 Nov 01. 24(11), 1521-1533.
Academic Journal
Iqbal, Maria; Maroofian, Reza; Çavdarli, Büşranur; Riccardi, Florence; Field, Michael; Banka, Siddharth; Bubshait, Dalal; Li, Yun; Hertecant, Jozef; Baig, Shahid; Dyment, David; Efthymiou, Stephanie; Abdullah, Uzma; Makhdoom, Ehtisham; Ali, Zafar; Scherf de Almeida, Tobias; Molinari, Florence; Mignon-Ravix, Cécile; Chabrol, Brigitte; Antony, Jayne; Ades, Lesley; Pagnamenta, Alistair; Jackson, Adam; Douzgou, Sofia; Ambrose, J; Arumugam, P; Bleda, M; Boardman-Pretty, F; Boustred, C; Brittain, H; Caulfield, M; Chan, G; Fowler, T; Giess, A; Hamblin, A; Henderson, S; Hubbard, T; Jackson, R; Jones, L; Kasperaviciute, D; Kayikci, M; Kousathanas, A; Lahnstein, L; Leigh, S; Leong, I; Lopez, F; Maleady-Crowe, F; Moutsianas, L; Mueller, M; Murugaesu, N; Need, A; O’donovan, P; Odhams, C; Patch, C; Perez-Gil, D; Pereira, M; Pullinger, J; Rahim, T; Rendon, A; Rogers, T; Savage, K; Sawant, K; Scott, R; Siddiq, A; Sieghart, A; Smith, S; Sosinsky, A; Stuckey, A; Tanguy, M; Thomas, E; Thompson, S; Tucci, A; Walsh, E; Welland, M; Williams, E; Witkowska, K; Wood, S; Beetz, Christian; Karageorgou, Vasiliki; Vona, Barbara; Rad, Aboulfazl; Baig, Jamshaid; Sultan, Tipu; Alvi, Javeria; Maqbool, Shazia; Rahman, Fatima; Toosi, Mehran; Ashrafzadeh, Farah; Imannezhad, Shima; Karimiani, Ehsan; Sarwar, Yasra; Khan, Sheraz; Jameel, Muhammad; Noegel, Angelika; Budde, Birgit; Altmüller, Janine; Motameny, Susanne; Höhne, Wolfgang; Houlden, Henry; Nürnberg, Peter; Wollnik, Bernd; Villard, Laurent; Alkuraya, Fowzan; Osmond, Matthew; Hussain, Muhammad; Yigit, Gökhan
Genet Med
Genomics England Research Consortium 2021, 'Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies', Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1038/s41436-021-01260-4
Genetics in Medicine
Genomics England Research Consortium 2021, 'Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies', Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1038/s41436-021-01260-4
Genetics in Medicine
Academic Journal
Dufour, William ; Alawbathani, Salem ; Jourdain, Anne-Sophie ; Asif, Maria ; Baujat, Geneviève ; Becker, Christian ; Budde, Birgit ; Gallacher, Lyndon ; Georgomanolis, Theodoros ; Ghoumid, Jamal ; Höhne, Wolfgang ; Lyonnet, Stanislas ; Ba-Saddik, Iman Ali ; Manouvrier-Hanu, Sylvie ; Motameny, Susanne ; Noegel, Angelika A. ; Pais, Lynn ; Vanlerberghe, Clémence ; Wagle, Prerana ; White, Susan M. ; Willems, Marjolaine ; Nürnberg, Peter ; Escande, Fabienne ; Petit, Florence ; Hussain, Muhammad Sajid
In Genetics in Medicine August 2022 24(8):1708-1721
Academic Journal
Asif, Maria ; Kaygusuz, Emrah ; Shinawi, Marwan ; Nickelsen, Anna ; Hsieh, Tzung-Chien ; Wagle, Prerana ; Budde, Birgit S. ; Hochscherf, Jennifer ; Abdullah, Uzma ; Höning, Stefan ; Nienberg, Christian ; Lindenblatt, Dirk ; Noegel, Angelika A. ; Altmüller, Janine ; Thiele, Holger ; Motameny, Susanne ; Fleischer, Nicole ; Segal, Idan ; Pais, Lynn ; Tinschert, Sigrid ; Samra, Nadra Nasser ; Savatt, Juliann M. ; Rudy, Natasha L. ; De Luca, Chiara ; Paola Fortugno ; White, Susan M. ; Krawitz, Peter ; Hurst, Anna C.E. ; Niefind, Karsten ; Jose, Joachim ; Brancati, Francesco ; Nürnberg, Peter ; Hussain, Muhammad Sajid
In Human Genetics and Genomics Advances 14 July 2022 3(3)
Academic Journal
Plant Ecology and Evolution, Vol 155, Iss 3, Pp 363-378 (2022)
Academic Journal
Ghada M. H. Abdel-Salam; Susanne Hellmuth; Elise Gradhand; Stephan Käseberg; Jennifer Winter; Ann-Sophie Pabst; Maha M. Eid; Holger Thiele; Peter Nürnberg; Birgit S. Budde; Mohammad Reza Toliat; Ines B. Brecht; Christopher Schroeder; Axel Gschwind; Stephan Ossowski; Friederike Häuser; Heidi Rossmann; Mohamed S. Abdel-Hamid; Ibrahim Hegazy; Ahmed G. Mohamed; Dominik T. Schneider; Aida Bertoli-Avella; Peter Bauer; Jillian N. Pearring; Rolph Pfundt; Alexander Hoischen; Christian Gilissen; Dennis Strand; Ulrich Zechner; Soha A. Tashkandi; Eissa A. Faqeih; Olaf Stemmann; Susanne Strand; Hanno J. Bolz
JCI Insight, Vol 8, Iss 22 (2023)
Academic Journal
Ahmad, Ilyas; Khan, Ayaz; Noor Ul Ayan, Hafiza; Budde, Birgit; Altmüller, Janine; Korejo, Asad Aslam; Nürnberg, Gudrun; Thiele, Holger; Tariq, Muhmmad; Nürnberg, Peter; Erdmann, Jeanette
Journal of Human Genetics. 68(2):107-109
Academic Journal
Kaiyin Wu; Danilo Schmidt; Covadonga López del Moral; Bilgin Osmanodja; Nils Lachmann; Fabian Halleck; Mira Choi; Friederike Bachmann; Simon Ronicke; Wiebke Duettmann; Marcel Naik; Eva Schrezenmeier; Birgit Rudolph; Klemens Budde
Frontiers in Medicine, Vol 9 (2022)
Academic Journal
Qiang Zhang; Klemens Budde; Danilo Schmidt; Fabian Halleck; Michael Duerr; Marcel G. Naik; Manuel Mayrdorfer; Wiebke Duettmann; Frederick Klauschen; Birgit Rudolph; Kaiyin Wu
Frontiers in Medicine, Vol 8 (2021)
Academic Journal
Dominika Oziębło; Anna Sarosiak; Marcin L. Leja; Birgit S. Budde; Grażyna Tacikowska; Nataliya Di Donato; Hanno J. Bolz; Peter Nürnberg; Henryk Skarżyński; Monika Ołdak
Journal of Translational Medicine, Vol 17, Iss 1, Pp 1-7 (2019)
Academic Journal
Sajida Rasool; Jamshaid Mahmood Baig; Abubakar Moawia; Ilyas Ahmad; Maria Iqbal; Syeda Seema Waseem; Maria Asif; Uzma Abdullah; Ehtisham Ul Haq Makhdoom; Emrah Kaygusuz; Muhammad Zakaria; Shafaq Ramzan; Saif ul Haque; Asif Mir; Iram Anjum; Mehak Fiaz; Zafar Ali; Muhammad Tariq; Neelam Saba; Wajid Hussain; Birgit Budde; Saba Irshad; Angelika A. Noegel; Stefan Höning; Shahid Mahmood Baig; Peter Nürnberg; Muhammad Sajid Hussain
Mol Genet Genomic Med
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Academic Journal
Gerth-Kahlert, Christina; Maggi, Jordi; Töteberg-Harms, Marc; Tiwari, Amit; Budde, Birgit; Nürnberg, Peter; Koller, Samuel; Berger, Wolfgang
Ophthalmology Glaucoma. 1:145-147
Academic Journal
Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Björn; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hülya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O’Connor, Brian D.; Kegler, Mareen Schmidt-von; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Haußer, Ingrid; Budde, Birgit; Nürnberg, Gudrun; Nürnberg, Peter; Seemann, Petra; Kunkel, Désirée; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe
Nature Genetics. 54(2):213-213
Academic Journal
Budde, Birgit S.; Namavar, Yasmin; Barth, Peter G.; Poll-The, Bwee Tien; Nürnberg, Gudrun; Becker, Christian; van Ruissen, Fred; Weterman, Marian A. J.; Fluiter, Kees; te Beek, Erik T.; Aronica, Eleonora; van der Knaap, Marjo S.; Höhne, Wolfgang; Toliat, Mohammad Reza; Crow, Yanick J.; Steinlin, Maja; Voit, Thomas; Roelens, Filip; Brussel, Wim; Brockmann, Knut; Kyllerman, Marten; Boltshauser, Eugen; Hammersen, Gerhard; Willemsen, Michèl; Basel-Vanagaite, Lina; Krägeloh-Mann, Ingeborg; de Vries, Linda S.; Sztriha, Laszlo; Muntoni, Francesco; Ferrie, Colin D.; Battini, Roberta; Hennekam, Raoul C. M.; Grillo, Eugenio; Beemer, Frits A.; Stoets, Loes M. E.; Wollnik, Bernd; Nürnberg, Peter; Baas, Frank; Hohne, W.; Krageloh-Mann, I.
Nature Genetics, 40, 9, pp. 1113-8
Academic Journal
Lutz Renders; Klemens Budde; Christian Rosenberger; Rachel van Swelm; Dorine Swinkels; Frank Dellanna; Werner Feuerer; Ming Wen; Christiane Erley; Birgit Bader; Claudia Sommerer; Matthias Schaier; Karoline Meurer; Louis Matis
PLoS ONE, Vol 14, Iss 3, p e0212023 (2019)
Academic Journal
Sukumaran, Salil K.; Stumpf, Maria; Salamon, Sarah; Ahmad, Ilyas; Bhattacharya, Kurchi; Fischer, Sarah; Müller, Rolf; Altmüller, Janine; Budde, Birgit; Thiele, Holger; Tariq, Muhammad; Malik, Naveed Altaf; Nürnberg, Peter; Baig, Shahid Mahmood; Hussain, Muhammad Sajid; Noegel, Angelika A.
Molecular Genetics and Genomics. April 2017 292(2):365-383
Academic Journal
Biological Chemistry. 395(2):231-237
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[검색어] Budde, Birgit
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