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pro vyhledávání: '"Leube, B."'
Autor:
Sterzer, E., Beyer, A., Duschek, L., Nattermann, L., Ringler, B., Leube, B., Stegmüller, A., Tonner, R., von Hänisch, C., Stolz, W., Volz, K.
Publikováno v:
In Journal of Crystal Growth 1 April 2016 439:19-27
Autor:
Minnerop M; Institute of Neuroscience and Medicine (INM-1), Research Center Jülich, Jülich, Germany.; Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Department of Neurology, Center for Movement Disorders and Neuromodulation, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany., Leube B; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Reinhardt A; Department of Neurology, Center for Movement Disorders and Neuromodulation, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany., Kölsche T; Department of Neurology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany., Lee JI; Department of Neurology, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany., Blank C; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Schnitzler A; Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Department of Neurology, Center for Movement Disorders and Neuromodulation, Medical Faculty, University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2023 Dec; Vol. 38 (12), pp. 2318-2319.
Akademický článek
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Autor:
Voit, T *, Kutz, P, Leube, B, Neuen-Jacob, E, Schröder, J.M, Cavallotti, D, Vaccario, M.L, Schaper, J, Broich, P, Cohn, R, Baethmann, M, Göhlich-Ratmann, G, Scoppetta, C, Herrmann, R
Publikováno v:
In Neuromuscular Disorders 2001 11(1):11-19
Autor:
Schmidt J; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany. julia.schmidt1@med.uni-goettingen.de., Goergens J; Max-Planck-Institute for Biology of Ageing, Cologne, Germany.; Department I of Internal Medicine, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Pochechueva T; Heart Research Center Göttingen, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany., Kotter A; Institute of Pharmaceutical and Biomedical Sciences, Johannes Gutenberg-University Mainz, Mainz, Germany., Schwenzer N; Heart Research Center Göttingen, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: From Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany., Sitte M; NGS-Integrative Genomics Core Unit (NIG), Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Werner G; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany., Altmüller J; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Core Facility Genomics, Charitéplatz 1, 10117, Berlin, Germany.; Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany., Thiele H; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Isensee J; Department of Anesthesiology and Intensive Care Medicine, Translational Pain Research, University Hospital of Cologne, Cologne, Germany., Li Y; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany., Müller C; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany., Leube B; Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany., Reinhardt HC; Department of Hematology and Stem Cell Transplantation, University Hospital Essen, University Duisburg-Essen, German Cancer Consortium (DKTK Partner Site Essen), Essen, Germany., Hucho T; Department of Anesthesiology and Intensive Care Medicine, Translational Pain Research, University Hospital of Cologne, Cologne, Germany., Salinas G; NGS-Integrative Genomics Core Unit (NIG), Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Helm M; Institute of Pharmaceutical and Biomedical Sciences, Johannes Gutenberg-University Mainz, Mainz, Germany., Jachimowicz RD; Max-Planck-Institute for Biology of Ageing, Cologne, Germany.; Department I of Internal Medicine, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Response in Aging-Associated Diseases, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany., Kohl T; Heart Research Center Göttingen, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Centre for Cardiovascular Research), partner site, Göttingen, Germany., Lehnart SE; Heart Research Center Göttingen, Department of Cardiology and Pneumology, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Centre for Cardiovascular Research), partner site, Göttingen, Germany.; Collaborative Research Unit SFB 1002, University of Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: From Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany.; Collaborative Research Unit SFB 1190, University of Göttingen, Göttingen, Germany.; Transatlantic Network of Excellence CURE-PLaN, Fondation Leducq, Paris, France., Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany., Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Heinrich-Düker-Weg 12, 37073, Göttingen, Germany. bernd.wollnik@med.uni-goettingen.de.; Cluster of Excellence 'Multiscale Bioimaging: From Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany. bernd.wollnik@med.uni-goettingen.de.
Publikováno v:
Human genetics [Hum Genet] 2021 Dec; Vol. 140 (12), pp. 1679-1693. Date of Electronic Publication: 2021 Sep 20.
Autor:
Loviglio, M. N, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., Roberts Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., Marshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A., Collaborators: Loviglio MN, Männik, K, van der Werf, I, Giannuzzi, G, Zazhytska, M, Gheldof, N, Migliavacca, E, Alfaiz, Aa, Roberts Caldeira, I, Hippolyte, L, Maillard, Am, Ferrarini, A, Butschi, Fn, Conrad, B, Addor, Mc, Belfiore, M, Roetzer, K, Dijck, Av, Blaumeiser, B, Kooy, F, Roelens, F, Dheedene, A, Chiaie, Bd, Menten, B, Oostra, A, Caberg, Jh, Carter, M, Kellam, B, Stavropoulos, Dj, Marshall, C, Scherer, Sw, Weksberg, R, Cytrynbaum, C, Bassett, A, Lowther, C, Gillis, J, Mackay, S, Bache, I, Ousager, Lb, Smerdel, Mp, Graakjaer, J, Kjaergaard, S, Metspalu, A, Mathieu, M, Bonneau, D, Guichet, A, Parent, P, Férec, C, Gerard, M, Plessis, G, Lespinasse, J, Masurel, A, Marle, N, Faivre, L, Callier, P, Layet, V, Meur, Nl, Le Goff, C, Duban Bedu, B, Sukno, S, Boute, O, Andrieux, J, Blanchet, P, Geneviève, D, Puechberty, J, Schneider, A, Leheup, B, Jonveaux, P, Mercier, S, David, A, Le Caignec, C, de Pontual, L, Pipiras, E, Jacquette, A, Keren, B, Gilbert Dussardier, B, Bilan, F, Goldenberg, A, Chambon, P, Toutain, A, Till, M, Sanlaville, D, Leube, B, Royer Pokora, B, Grabe, Hj, Schmidt, Co, Schurmann, C, Homuth, G, Thorleifsson, G, Thorsteinsdottir, U, Bernardini, L, Novelli, A, Micale, L, Merla, G, Zollino, M, Mari, Francesca, Rizzo, Cl, Renieri, Alessandra, Silengo, M, Vulto van Silfhout AT, Schouten, M, Pfundt, R, de Leeuw, N, Vansenne, F, Maas, Sm, Barge Schaapveld DQ, Knegt, Ac, Stadheim, B, Rodningen, O, Houge, G, Price, S, Hawkes, L, Campbell, C, Kini, U, Vogt, J, Walters, R, Blakemore, A, Gusella, Jf, Shen, Y, Scott, D, Bacino, Ca, Tsuchiya, K, Ladda, R, Sell, S, Asamoah, A, Hamati, Ai, Rosenfeld, Ja, Shaffer, Lg, Mitchell, E, Hodge, Jc, Beckmann, Js, Jacquemont, S, Reymond, A, Ewans, Lj, Mowat, D, Walker, J, Amor, Dj, Esch, Hv, Leroy, P, Bamforth, Js, Babu, D, Isidor, B, Didonato, N, Hackmann, K, Passeggeri, M, Haeringen, Av, Smith, R, Ellingwood, S, Farber, Dm, Puri, V, Zadeh, N, Weaver, Dd, Miller, M, Wilks, T, Jorgez, Cj, Lafayette, D
Publikováno v:
Molecular Psychiatry
Molecular Psychiatry, 22, 6, pp. 836-849
Molecular Psychiatry, Vol. 22, No 6 (2017) pp. 836-849
Molecular psychiatry
Molecular Psychiatry, vol. 22, no. 6, pp. 836-849
Molecular psychiatry, 22(6), 836-849. Nature Publishing Group
Molecular Psychiatry, 22, 836-849
Ousager, L B & 2p15 Consortium 2017, ' Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes ', Molecular Psychiatry, vol. 22, no. 6, pp. 836-849 . https://doi.org/10.1038/mp.2016.84
Molecular Psychiatry, 22, 6, pp. 836-849
Molecular Psychiatry, Vol. 22, No 6 (2017) pp. 836-849
Molecular psychiatry
Molecular Psychiatry, vol. 22, no. 6, pp. 836-849
Molecular psychiatry, 22(6), 836-849. Nature Publishing Group
Molecular Psychiatry, 22, 836-849
Ousager, L B & 2p15 Consortium 2017, ' Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes ', Molecular Psychiatry, vol. 22, no. 6, pp. 836-849 . https://doi.org/10.1038/mp.2016.84
Contains fulltext : 174530.pdf (Publisher’s version ) (Open Access) Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e98c19065714c6dc4dc463a87aed674
https://pubmed.ncbi.nlm.nih.gov/27240531
https://pubmed.ncbi.nlm.nih.gov/27240531
Publikováno v:
In Neuromuscular Disorders 1999 9(2):95-101
Publikováno v:
PLoS One
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
We describe a stromal predominant Wilms tumor with focal anaplasia and a complex, tumor specific chromosome 11 aberration: a homozygous deletion of the entire WT1 gene within a heterozygous 11p13 deletion and an additional region of uniparental disom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::284a2e866904749b2885971d4a29acdb
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12360
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12360
Autor:
Atasever Yildirim, Gozde1 (AUTHOR), Anlas, Ozlem2 (AUTHOR), Kisla Ekinci, Rabia Miray3 (AUTHOR) mir_kisla@hotmail.com
Publikováno v:
Egyptian Journal of Medical Human Genetics. 10/21/2024, Vol. 25 Issue 1, p1-6. 6p.
Publikováno v:
bchm. 379:907-930
We have cloned two human putative steroid binding membrane proteins, termed Hpr6.6 and Dg6. Hpr6.6 is the human homolog of a previously cloned porcine progesterone binding protein. Both proteins contain a putative transmembrane domain and a highly co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d9cf4cf420dabddec8174db435228d48
https://doi.org/10.1515/bchm.1998.379.7.907
https://doi.org/10.1515/bchm.1998.379.7.907