المؤلفون: Jansen, S, Geuer, S, Pfundt, R, Brough, R, Ghongane, P, Herkert, JC, Marco, EJ, Willemsen, MH, Kleefstra, T, Hannibal, M, Shieh, JT, Lynch, SA, Flinter, F, FitzPatrick, DR, Gardham, A, Bernhard, B, Ragge, N, Newbury-Ecob, R, Bernier, R, Kvarnung, M, Magnusson, EAH, Wessels, MW, van Slegtenhorst, MA, Monaghan, KG, de Vries, P, Veltman, JA, Lord, CJ, Vissers, LELM, de Vries, BBA

المصدر: American journal of human genetics. 100(4):650-658

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:135465810

المؤلفون: Vissers, L.E.L.M., Kalvakuri, S., de Boer, E., Geuer, S., Oud, M., van Outersterp, I., Kwint, M., Witmond, M., Kersten, S., Polla, D.L., Weijers, D., Begtrup, A., McWalter, K., Ruiz, A., Gabau, E., Morton, J.E.V., Griffith, C., Weiss, K., Gamble, C., Bartley, J., Vernon, H.J., Brunet, K., Ruivenkamp, C., Kant, S.G., Kruszka, P., Larson, A., Afenjar, A., de Villemeur, T.B., Nugent, K., Raymond, F.L., Venselaar, H., Demurger, F., Soler-Alfonso, C., Li, D., Bhoj, E., Hayes, I., Hamilton, N.P., Ahmad, A., Fisher, R., van den Born, M., Willems, M., Sorlin, A., Delanne, J., Moutton, S., Christophe, P., Mau-Them, F.T., Vitobello, A., Goel, H., Massingham, L., Phornphutkul, C., Vreeburg, Maaike, Bodmer, Rolf

المصدر: Vissers , L E L M , Kalvakuri , S , de Boer , E , Geuer , S , Oud , M , van Outersterp , I , Kwint , M , Witmond , M , Kersten , S , Polla , D L , Weijers , D , Begtrup , A , McWalter , K , Ruiz , A , Gabau , E , Morton , J E V , Griffith , C , Weiss , K , Gamble , C , Bartley , J , Vernon , H J , Brunet , K , Ruivenkamp , ....

مصطلحات موضوعية: deadenylase complex, regulators, repressor, subunit

Relation: https://cris.maastrichtuniversity.nl/en/publications/46c22764-b5de-406b-9120-31be699b5c7c

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/46c22764-b5de-406b-9120-31be699b5c7c
https://doi.org/10.1016/j.ajhg.2020.05.017

المؤلفون: Flöttmann, R., Kragesteen, B., Geuer, S., Socha, M., Allou, L., Sowińska-Seidler, A., Bosquillon de Jarcy, L., Wagner, J., Jamsheer, A., Oehl-Jaschkowitz, B., Wittler, L., de Silva, D., Kurth, I., Maya, I., Santos-Simarro, F., Hülsemann, W., Klopocki, E., Mountford, R., Fryer, A., Borck, G., Horn, D., Lapunzina, P., Wilson, M., Mascrez, B., Duboule, D., Mundlos, S., Spielmann, M.

المصدر: GENETICS IN MEDICINE

وصف الملف: application/pdf

Relation: http://hdl.handle.net/21.11116/0000-0003-5C96-D; http://hdl.handle.net/21.11116/0000-0003-5C98-B

الاتاحة: http://hdl.handle.net/21.11116/0000-0003-5C96-D
http://hdl.handle.net/21.11116/0000-0003-5C98-B

المؤلفون: Voisin N., Schnur R. E., Douzgou S., Hiatt S. M., Rustad C. F., Brown N. J., Earl D. L., Keren B., Levchenko O., Geuer S., Verheyen S., Johnson D., Zarate Y. A., Hancarova M., Amor D. J., Bebin E. M., Blatterer J., Brusco A., Cappuccio G., Charrow J., Chatron N., Cooper G. M., Courtin T., Dadali E., Delafontaine J., Del Giudice E., Doco M., Douglas G., Eisenkolbl A., Funari T., Giannuzzi G., Gruber-Sedlmayr U., Guex N., Heron D., Holla O. L., Hurst A. C. E., Juusola J., Kronn D., Lavrov A., Lee C., Lorrain S., Merckoll E., Mikhaleva A., Norman J., Pradervand S., Prchalova D., Rhodes L., Sanders V. R., Sedlacek Z., Seebacher H. A., Sellars E. A., Sirchia F., Takenouchi T., Tanaka A. J., Taska-Tench H., Tonne E., Tveten K., Vitiello G., Vlckova M., Uehara T., Nava C., Yalcin B., Kosaki K., Donnai D., Mundlos S., Brunetti-Pierri N., Chung W. K., Reymond A.

المساهمون: Voisin, N., Schnur, R. E., Douzgou, S., Hiatt, S. M., Rustad, C. F., Brown, N. J., Earl, D. L., Keren, B., Levchenko, O., Geuer, S., Verheyen, S., Johnson, D., Zarate, Y. A., Hancarova, M., Amor, D. J., Bebin, E. M., Blatterer, J., Brusco, A., Cappuccio, G., Charrow, J., Chatron, N., Cooper, G. M., Courtin, T., Dadali, E., Delafontaine, J., Del Giudice, E., Doco, M., Douglas, G., Eisenkolbl, A., Funari, T., Giannuzzi, G., Gruber-Sedlmayr, U., Guex, N., Heron, D., Holla, O. L., Hurst, A. C. E., Juusola, J., Kronn, D., Lavrov, A., Lee, C., Lorrain, S., Merckoll, E., Mikhaleva, A., Norman, J., Pradervand, S., Prchalova, D., Rhodes, L., Sanders, V. R., Sedlacek, Z., Seebacher, H. A., Sellars, E. A., Sirchia, F., Takenouchi, T., Tanaka, A. J., Taska-Tench, H., Tonne, E., Tveten, K., Vitiello, G., Vlckova, M., Uehara, T., Nava, C., Yalcin, B., Kosaki, K., Donnai, D., Mundlos, S., Brunetti-Pierri, N., Chung, W. K., Reymond, A.

مصطلحات موضوعية: AFF3, AFF4, horseshoe kidney, intellectual disability, mesomelic dysplasia, Adolescent, Amino Acid Sequence, Animal, Brain Disease, Child, Preschool, Epilepsy, Evolution, Molecular, Female, Fused Kidney, Gene Frequency, Human, Infant, Male, Mice, Models, Nuclear Protein, Osteochondrodysplasia, Phenotype, Protein Stability, Syndrome, Transcriptional Elongation Factor, Young Adult, Zebrafish

Relation: info:eu-repo/semantics/altIdentifier/pmid/33961779; info:eu-repo/semantics/altIdentifier/wos/WOS:000658896700007; volume:108; issue:5; firstpage:857; lastpage:873; numberofpages:17; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11571/1451931; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105081668

الاتاحة: http://hdl.handle.net/11571/1451931
https://doi.org/10.1016/j.ajhg.2021.04.001

المؤلفون: Kraft, K., Geuer, S., Will, A., Chan, W., Paliou, C., Borschiwer, M., Harabula, I., Wittler, L., Franke, M., Ibrahim, D., Kragesteen, B., Spielmann, M., Mundlos, S., Lupianez, D., Andrey, G.

المصدر: Cell Reports

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pissn/2211-1247 (Electronic); http://hdl.handle.net/11858/00-001M-0000-0025-78F1-2; http://hdl.handle.net/11858/00-001M-0000-0025-78F3-D

الاتاحة: http://hdl.handle.net/11858/00-001M-0000-0025-78F1-2
http://hdl.handle.net/11858/00-001M-0000-0025-78F3-D

المؤلفون: Voisin, N., Schnur, R., Douzgou , S., Hiatt, S., Rustad, C., Brown, N., Earl, D., Keren, B., Levchenko, O., Geuer, S., Verheyen, S., Johnson , D., Zarate, Y., Hančárová, M., Amor, D., Bebin, E., Blatterer, J., Brusco, A., Cappuccio, G., Charrow, J., Chatron, N., Cooper, G., Courtin, T., Dadali, E., Delafontaine, J., Del Giudice, E., Doco, M., Douglas, G., Eisenkölbl, A., Funari, T., Giannuzzi , G., Gruber-Sedlmayr, U., Guex, N., Heron, D., Holla, Ø., Hurst, A., Juusola, J., Kronn, D., Lavrov, A., Lee, C., Lorrain, S., Merckoll, E., Mikhaleva, A., Norman, J., Pradervand, S., Prchalová, D., Rhodes, L., Sanders , V., Sedláček, Z., Seebacher , H., Sellars, E., Sirchia, F., Takenouchi, T., Tanaka, A., Taska-Tench, H., Tønne, E., Tveten, K., Vitiello, G., Vlčková , M., Uehara, T., Nava, C., Yalcin, B., Kosaki, K., Donnai, D., Mundlos, S., Brunetti-Pierri, N., Chung, W., Reymond, A.

المصدر: The American Journal of Human Genetics

Relation: http://hdl.handle.net/21.11116/0000-0008-AFCB-F

الاتاحة: http://hdl.handle.net/21.11116/0000-0008-AFCB-F

المؤلفون: Wevers, R.A., Christensen, M., Engelke, U.F.H., Geuer, S., Coene, K.L.M., Kwast, J.T., Lund, A.M., Vissers, L.E.L.M.

المصدر: Journal of Inherited Metabolic Disease, 42, 3, pp. 494-500

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 4: lnfectious Diseases and Global Health RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: http://hdl.handle.net/2066/203472

الاتاحة: http://hdl.handle.net/2066/203472
https://doi.org/10.1002/jimd.12081

المؤلفون: Köblitz I, Geuer S, Meissler M, Daniel Liedtke, Sabine Knaup, Orth M, Eva Klopocki

مصطلحات موضوعية: Apical ectodermal ridge, Extracellular matrix, biology, Regeneration (biology), Fish fin, Danio, Limb development, biology.organism_classification, Developmental biology, Zebrafish, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75313e47d126364d7a136543043a4128
https://doi.org/10.1101/386813

المؤلفون: Coman, D., Vissers, L.E.L.M., Riley, L.G., Kwint, M.P., Hauck, Roxanna, Koster, J., Geuer, S., Engelke, U.F.H., Wevers, R.A., Pitt, J.

المصدر: American Journal of Human Genetics, 103, 1, pp. 125-130

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: http://hdl.handle.net/2066/194507

الاتاحة: http://hdl.handle.net/2066/194507
https://doi.org/10.1016/j.ajhg.2018.05.004

المؤلفون: Flottmann, R, Kragesteen, BK, Geuer, S, Socha, M, Allou, L, Sowinska-Seidler, A, de Jarcy, LB, Wagner, J, Jamsheer, A, Oehl-Jaschkowitz, B, Wittler, L, de Silva, D, Kurth, I, Maya, I, Santos-Simarro, F, Hulsemann, W, Klopocki, E, Mountford, R, Fryer, A, Borck, G, Horn, D, Lapunzina, P, Wilson, M, Mascrez, B, Duboule, D, Mundlos, S, Spielmann, M

المصدر: http://infoscience.epfl.ch/record/259487.

Relation: isi:000434409000005; http://infoscience.epfl.ch/record/259487

الاتاحة: https://doi.org/10.1038/gim.2017.154
http://infoscience.epfl.ch/record/259487

المؤلفون: Willemsen, M.A.A.P., Vissers, L.E.L.M., Verbeek, M.M., Bon, B.W.M. van, Geuer, S., Gilissen, C.F., Klepper, J., Kwint, M.P., Leen, W.G., Pennings, M., Wevers, R.A., Veltman, J.A., Kamsteeg, E.J.

المصدر: European Journal of Human Genetics; 771; 774; 1018-4813; 6; 25; ~European Journal of Human Genetics~771~774~~~1018-4813~6~25~~

URL: http://hdl.handle.net/2066/174080

المؤلفون: Jansen, S. (Sandra), Geuer, S. (Sinje), Pfundt, R. (Rolph), Brough, R. (Rachel), Ghongane, P. (Priyanka), Herkert, J.C. (Johanna), Marco, E.J. (Elysa J.), Willemsen, M.H. (Marjolein), Kleefstra, T. (Tjitske), Hannibal, M. (Mark), Shieh, J.T. (Joseph T.), Lynch, S.A., Flinter, F. (Frances), Fitzpatrick, D.R. (David), Gardham, A. (Alice), Bernhard, B. (Birgitta), Ragge, N. (Nicola), Newbury-Ecob, R. (Ruth), Bernier, R. (Raphael), Kvarnung, M. (Malin), Magnusson, E.A.H. (E.A. Helena), Wessels, M.W. (Marja), Slegtenhorst, M.A. (Marjon) van, Monaghan, K.G. (Kristin G.), de Vries, P. (Petra), Veltman, J.A. (Joris), Lord, C.J. (Christopher ), Vissers, L.E.L.M., Vries, B. (Boukje) de

مصطلحات الفهرس: Cell-cycle checkpoint, Intellectual disability, PPM1D, Stress-response pathway, Syndrome, Truncating mutation, info:eu-repo/semantics/article

URL: http://repub.eur.nl/pub/98864

المؤلفون: Rhonda E. Schnur, Fabio Sirchia, Olga Levchenko, Caroline Nava, Jane Juusola, Sarah Verheyen, Marketa Vlckova, Lindsay Rhodes, Gregory M. Cooper, Darina Prchalova, Thomas Courtin, Øystein L. Holla, David Kronn, Akemi J. Tanaka, E. Martina Bebin, Tara Funari, Miroslava Hancarova, Ennio Del Giudice, Nicolas Guex, Astrid Eisenkölbl, Dawn L. Earl, Toshiki Takenouchi, Ursula Gruber-Sedlmayr, Sedlácek Z, Sofia Douzgou, Heidelis A. Seebacher, Gerarda Cappuccio, Jasmin Blatterer, Anna Mikhaleva, Dian Donnai, Wendy K. Chung, Else Merckoll, Natasha J Brown, Elizabeth A. Sellars, Stefan Mundlos, Susan M. Hiatt, Giuliana Giannuzzi, Sinje Geuer, Giuseppina Vitiello, Séverine Lorrain, Alexandre Reymond, David J. Amor, Nicolas Chatron, Julien Delafontaine, Martine Doco, Kristian Tveten, Cecilie F. Rustad, Sylvain Pradervand, Delphine Héron, Alfredo Brusco, Elena L. Dadali, Nicola Brunetti-Pierri, Boris Keren, Yuri A. Zarate, Crystle Lee, Joel Charrow, Binnaz Yalcin, Heidi Taska-Tench, Elin Tønne, Tomoko Uehara, Alexander Lavrov, Jennifer Norman, Norine Voisin, Anna C.E. Hurst, Victoria R. Sanders, Ganka Douglas, Diana Johnson, Kenjiro Kosaki

المساهمون: Université de Lausanne = University of Lausanne (UNIL), Cooper Medical School of Rowan University [Camden] (CMSRU), Manchester University NHS Foundation Trust (MFT), University of Manchester [Manchester], HudsonAlpha Institute for Biotechnology [Huntsville, AL], Oslo University Hospital [Oslo], Victorian Clinical Genetics Services [Melbourne, VIC, Australia] (VCGS), Murdoch Children's Research Institute (MCRI), University of Melbourne, Seattle Children’s Hospital, Groupe de Recherche Clinique : Déficience Intellectuelle et Autisme [ CHU Pitié-Salpêtrière AP-HP] (GRC : DIA), Université Pierre et Marie Curie - Paris 6 (UPMC)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Research Centre for Medical Genetics [Moscow, Russia] (RCMG), Max Planck Institute for Molecular Genetics (MPIMG), Max-Planck-Gesellschaft, Medical University of Graz, Sheffield Children's NHS Foundation Trust, University of Arkansas at Little Rock, Charles University [Prague] (CU), University Hospital Motol [Prague], University of Alabama at Birmingham [ Birmingham] (UAB), Università degli studi di Torino = University of Turin (UNITO), Azienda Ospedalerio - Universitaria Città della Salute e della Scienza di Torino = University Hospital Città della Salute e della Scienza di Torino, University of Naples Federico II = Università degli studi di Napoli Federico II, Ann & Robert H. Lurie Children's Hospital of Chicago, Swiss Institute of Bioinformatics [Lausanne] (SIB), Hémostase et Remodelage Vasculaire Post-Ischémie (HERVI - EA 3801), Université de Reims Champagne-Ardenne (URCA), GeneDx [Gaithersburg, MD, USA], Johannes Kepler University Linz [Linz] (JKU), Telemark Hospital Trust [Skien, Norway], New York Medical College (NYMC), Integris Pediatric Neurology [Oklahoma City, OK, USA] (IPN), Institute for Maternal and Child Health - IRCCS 'Burlo Garofolo' [Trieste], Keio University School of Medicine [Tokyo, Japan], Columbia University [New York], Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Manchester Centre for Genomic Medicine [Manchester, UK] (MCGM), St Mary's Hospital Manchester-Manchester Academic Health Science Centre (MAHSC), University of Manchester [Manchester]-University of Manchester [Manchester]-Manchester University NHS Foundation Trust (MFT)-Faculty of Biology, Medicine and Health [Manchester, UK], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Dupuis, Christine, Voisin, N., Schnur, R. E., Douzgou, S., Hiatt, S. M., Rustad, C. F., Brown, N. J., Earl, D. L., Keren, B., Levchenko, O., Geuer, S., Verheyen, S., Johnson, D., Zarate, Y. A., Hancarova, M., Amor, D. J., Bebin, E. M., Blatterer, J., Brusco, A., Cappuccio, G., Charrow, J., Chatron, N., Cooper, G. M., Courtin, T., Dadali, E., Delafontaine, J., Del Giudice, E., Doco, M., Douglas, G., Eisenkolbl, A., Funari, T., Giannuzzi, G., Gruber-Sedlmayr, U., Guex, N., Heron, D., Holla, O. L., Hurst, A. C. E., Juusola, J., Kronn, D., Lavrov, A., Lee, C., Lorrain, S., Merckoll, E., Mikhaleva, A., Norman, J., Pradervand, S., Prchalova, D., Rhodes, L., Sanders, V. R., Sedlacek, Z., Seebacher, H. A., Sellars, E. A., Sirchia, F., Takenouchi, T., Tanaka, A. J., Taska-Tench, H., Tonne, E., Tveten, K., Vitiello, G., Vlckova, M., Uehara, T., Nava, C., Yalcin, B., Kosaki, K., Donnai, D., Mundlos, S., Brunetti Pierri, N., Chung, W. K., Reymond, A.

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 2021, 108, pp.857-873. ⟨10.1016/j.ajhg.2021.04.001⟩
Am J Hum Genet

مصطلحات موضوعية: Male, Models, Molecular, Hypertrichosis, [SDV]Life Sciences [q-bio], Mesomelic Dysplasia, Transcriptome, Mice, Gene Frequency, Missense mutation, Child, Zebrafish, Genetics (clinical), Genetics, Brain Diseases, 0303 health sciences, biology, Protein Stability, 030305 genetics & heredity, AFF3, AFF4, horseshoe kidney, intellectual disability, mesomelic dysplasia, Nuclear Proteins, Syndrome, Phenotype, Ubiquitin ligase, [SDV] Life Sciences [q-bio], Child, Preschool, Female, Transcriptional Elongation Factors, Adolescent, Mutation, Missense, Osteochondrodysplasias, Article, Evolution, Molecular, Young Adult, 03 medical and health sciences, medicine, Animals, Humans, Amino Acid Sequence, Fused Kidney, 030304 developmental biology, Epilepsy, Infant, Horseshoe kidney, biology.organism_classification, medicine.disease, biology.protein

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bdc2a9f1f9c07fc6b814c2617df3bcc
http://hdl.handle.net/2318/1789646