Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Laulund, Lone Walentin"'
Autor:
Bogaert, Elke, Garde, Aurore, Gautier, Thierry, Rooney, Kathleen, Duffourd, Yannis, LeBlanc, Pontus, van Reempts, Emma, Tran Mau-Them, Frederic, Wentzensen, Ingrid M., Au, Kit Sing, Richardson, Kate, Northrup, Hope, Gatinois, Vincent, Geneviève, David, Louie, Raymond J., Lyons, Michael J., Laulund, Lone Walentin, Brasch-Andersen, Charlotte, Maxel Juul, Trine, El It, Fatima, Marle, Nathalie, Callier, Patrick, Relator, Raissa, Haghshenas, Sadegheh, McConkey, Haley, Kerkhof, Jennifer, Cesario, Claudia, Novelli, Antonio, Brunetti-Pierri, Nicola, Pinelli, Michele, Pennamen, Perrine, Naudion, Sophie, Legendre, Marine, Courdier, Cécile, Trimouille, Aurelien, Fenzy, Martine Doco, Pais, Lynn, Yeung, Alison, Nugent, Kimberly, Roeder, Elizabeth R., Mitani, Tadahiro, Posey, Jennifer E., Calame, Daniel, Yonath, Hagith, Rosenfeld, Jill A., Musante, Luciana, Faletra, Flavio, Montanari, Francesca, Sartor, Giovanna, Vancini, Alessandra, Seri, Marco, Besmond, Claude, Poirier, Karine, Hubert, Laurence, Hemelsoet, Dimitri, Munnich, Arnold, Lupski, James R., Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Sadikovic, Bekim, Govin, Jérôme, Dermaut, Bart, Vitobello, Antonio
Publikováno v:
In The American Journal of Human Genetics 4 May 2023 110(5):790-808
Autor:
Lester, Emilie Boye, Larsen, Martin Jakob, Laulund, Lone Walentin, Illum, Niels, Dunkhase-Heinl, Ulrike, Schrøder, Henrik Daa, Fagerberg, Christina Ringmann
Publikováno v:
In European Journal of Medical Genetics March 2023 66(3)
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
Paulet, Alix, Bennett-Ness, Cavan, Ageorges, Faustine, Trost, Detlef, Green, Andrew, Goudie, David, Jewell, Rosalyn, Kraatari-Tiri, Minna, PIARD, Juliette, Coubes, Christine, Lam, Wayne, Lynch, Sally Ann, Samuel, Groeschel, Ramond, Francis, Fluss, Joël, Fagerberg, Christina, Brasch Andersen, Charlotte, Varvagiannis, Konstantinos, Kleefstra, Tjitske, Gérard, Bénédicte, Fradin, Mélanie, Vitobello, Antonio, Tenconi, Romano, Denommé-Pichon, Anne-Sophie, Vincent-Devulder, Aline, Haack, Tobias, Marsh, Joseph A, Laulund, Lone Walentin, Grimmel, Mona, Riess, Angelika, de Boer, Elke, Padilla-Lopez, Sergio, Bakhtiari, Somayeh, Kruer, Michael C, Levy, Jonathan, Verloes, Alain, Abbott, Catherine M, Ruaud, Lyse
Publikováno v:
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-6, 6p
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Paulet, Alix, Bennett-Ness, Cavan, Ageorges, Faustine, Trost, Detlef, Green, Andrew, Goudie, David, Jewell, Rosalyn, Kraatari-Tiri, Minna, PIARD, Juliette, Coubes, Christine, Lam, Wayne, Lynch, Sally Ann, Groeschel, Samuel, Ramond, Francis, Fluss, Joël, Fagerberg, Christina, Brasch Andersen, Charlotte, Varvagiannis, Konstantinos, Kleefstra, Tjitske, Gérard, Bénédicte, Fradin, Mélanie, Vitobello, Antonio, Tenconi, Romano, Denommé-Pichon, Anne-Sophie, Vincent-Devulder, Aline, Haack, Tobias, Marsh, Joseph A, Laulund, Lone Walentin, Grimmel, Mona, Riess, Angelika, de Boer, Elke, Padilla-Lopez, Sergio, Bakhtiari, Somayeh, Ostendorf, Adam, Zweier, Christiane, Smol, Thomas, Willems, Marjolaine, Faivre, Laurence, Scala, Marcello, Striano, Pasquale, Bagnasco, Irene, Koboldt, Daniel, Iascone, Maria, Suerink, Manon, Kruer, Michael C, Levy, Jonathan, Verloes, Alain, Abbott, Catherine M, Ruaud, Lyse
Publikováno v:
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-1, 1p
Autor:
Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc, Emma van Reempts, Frederic Tran Mau-Them, Ingrid M. Wentzensen, Kit Sing Au, Kate Richardson, Hope Northrup, Vincent Gatinois, David Geneviève, Raymond J. Louie, Michael J. Lyons, Lone Walentin Laulund, Charlotte Brasch-Andersen, Trine Maxel Juul, Fatima El It, Nathalie Marle, Patrick Callier, Raissa Relator, Sadegheh Haghshenas, Haley McConkey, Jennifer Kerkhof, Claudia Cesario, Antonio Novelli, Nicola Brunetti-Pierri, Michele Pinelli, Perrine Pennamen, Sophie Naudion, Marine Legendre, Cécile Courdier, Aurelien Trimouille, Martine Doco Fenzy, Lynn Pais, Alison Yeung, Kimberly Nugent, Elizabeth R. Roeder, Tadahiro Mitani, Jennifer E. Posey, Daniel Calame, Hagith Yonath, Jill A. Rosenfeld, Luciana Musante, Flavio Faletra, Francesca Montanari, Giovanna Sartor, Alessandra Vancini, Marco Seri, Claude Besmond, Karine Poirier, Laurence Hubert, Dimitri Hemelsoet, Arnold Munnich, James R. Lupski, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre, Bekim Sadikovic, Jérôme Govin, Bart Dermaut, Antonio Vitobello
Publikováno v:
AMERICAN JOURNAL OF HUMAN GENETICS
SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that belongs to the arginine/serine (R/S) domain family. It recognizes and binds to mRNA, regulating both constitutive and alternative splicing. The complete loss of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a5551e236309b7081069f46ca7428ec
https://hdl.handle.net/1854/LU-01GYYM7M9B6XFW9NMT6Y4E6XMM
https://hdl.handle.net/1854/LU-01GYYM7M9B6XFW9NMT6Y4E6XMM
Autor:
Paulet A; Département de Génétique, Hôpital Robert-Debré, Paris, France. alix.paulet@hotmail.fr., Bennett-Ness C; Centre for Genomic and Experimental Medicine and Simons Initiative for the Developing Brain, Institute of Genetics and Cancer, Edinburgh, Scotland, UK., Ageorges F; Département de Génétique, Hôpital Robert-Debré, Paris, France., Trost D; Laboratoire Cerba, Saint-Ouen l'Aumône, France., Green A; UCD School of Medicine and Medical Science Consultant in Clinical Genetics, Dublin, Ireland., Goudie D; Regional Genetics Service, NHS Tayside, Dundee, Scotland, UK., Jewell R; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, England, UK., Kraatari-Tiri M; Department of Clinical Genetics, Research unit of Clinical Medicine, Medical Research Center Oulu, Oulu, Finland.; Oulu University Hospital and University of Oulu, Oulu, Finland., Piard J; Centre de Génétique Humaine, CHU Besançon, Besançon, France., Coubes C; Service de Génétique Médicale, CHU de Montpellier, Montpellier, France., Lam W; South-East of Scotland Clinical Genetics Service, General Hospital, Edinburgh, Scotland, UK., Lynch SA; Clinical Genetics, Children's Health Ireland, Dublin, Ireland., Groeschel S; Department of Neuropediatrics, University Children's Hospital, Tuebingen, Germany., Ramond F; Service de Génétique, CHU Saint-Etienne - Hôpital Nord, Saint-Etienne, France., Fluss J; University Hospitals of Geneva, Geneva, Switzerland., Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Brasch Andersen C; Human Genetik, Syddansk Universitet, Odense, Denmark., Varvagiannis K; Service de Médecine Génétique, Hôpitaux universitaires de Genève, Geneva, Switzerland., Kleefstra T; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands., Gérard B; Molecular Biology, Nouvel Hôpital Civil, Strasbourg, France., Fradin M; Service de Génétique Médicale, Hôpital Sud, CHU de Rennes, Rennes, France., Vitobello A; UMR-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France., Tenconi R; Servizio di Genetica Medica, Dipartimento di Pediatra, Padova, Italia., Denommé-Pichon AS; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Vincent-Devulder A; Génétique Médicale, CHU de Caen, Caen, France., Haack T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Marsh JA; MRC Human Genetics Unit, Western General Hospital, University of Edinburgh, Edinburgh, Scotland, UK., Laulund LW; H C Andersen Children's Hospital, Odense University Hospital, Odense, Denmark., Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Riess A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., de Boer E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Padilla-Lopez S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA., Ostendorf A; Steve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital, Colombus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Colombus, OH, USA., Zweier C; Department of Human Genetics, Inselspital Bern, University of Bern, 3010, Bern, Switzerland.; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany., Smol T; University of Lille, EA7364-RADEME, Medical Genetics Institute, Chu Lille, Lille, France., Willems M; Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Groupe DI, Inserm U1298, INM, Montpellier University, Montpellier, France.; Centre Hospitalier Universitaire de Montpellier, Montpellier, France., Faivre L; UMR1231 GAD, Inserm, Université de Bourgogne-Franche Comté, Dijon, France.; Centre de Référence Maladies Rares « Anomalies du développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD et Institut GIMI, CHU dijon, Bourgogne, Dijon, France., Scala M; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Bagnasco I; Division of Child Neuropsychiatry, Martini Hospital, Torino, Italy., Koboldt D; Steve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital, Colombus, OH, USA., Iascone M; Laboratorio Di Genetica Medica, Bergamo, Italy., Suerink M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA., Levy J; Département de Génétique, Hôpital Robert-Debré, Paris, France., Verloes A; Département de Génétique, Hôpital Robert-Debré, Paris, France., Abbott CM; Centre for Genomic and Experimental Medicine and Simons Initiative for the Developing Brain, Institute of Genetics and Cancer, Edinburgh, Scotland, UK., Ruaud L; Département de Génétique, Hôpital Robert-Debré, Paris, France.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Sep; Vol. 32 (9), pp. 1191.
Autor:
Paulet A; Département de Génétique, Hôpital Robert-Debré, Paris, France. alix.paulet@hotmail.fr., Bennett-Ness C; Centre for Genomic and Experimental Medicine and Simons Initiative for the Developing Brain, Institute of Genetics and Cancer, Edinburgh, Scotland, UK., Ageorges F; Département de Génétique, Hôpital Robert-Debré, Paris, France., Trost D; Laboratoire Cerba, Saint-Ouen l'Aumône, France., Green A; UCD School of Medicine and Medical Science Consultant in Clinical Genetics, Dublin, Ireland., Goudie D; Regional Genetics Service, NHS Tayside, Dundee, Scotland, UK., Jewell R; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, England, UK., Kraatari-Tiri M; Department of Clinical Genetics, Research unit of Clinical Medicine, Medical Research Center Oulu, Oulu, Finland.; Oulu University Hospital and University of Oulu, Oulu, Finland., Piard J; Centre de Génétique Humaine, CHU Besançon, Besançon, France., Coubes C; Service de Génétique Médicale, CHU de Montpellier, Montpellier, France., Lam W; South-East of Scotland Clinical Genetics Service, General Hospital, Edinburgh, Scotland, UK., Lynch SA; Clinical Genetics, Children's Health Ireland, Dublin, Ireland., Groeschel S; Department of Neuropediatrics, University Children's Hospital, Tuebingen, Germany., Ramond F; Service de Génétique, CHU Saint-Etienne - Hôpital Nord, Saint-Etienne, France., Fluss J; University Hospitals of Geneva, Geneva, Switzerland., Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Brasch Andersen C; Human Genetik, Syddansk Universitet, Odense, Denmark., Varvagiannis K; Service de Médecine Génétique, Hôpitaux universitaires de Genève, Geneva, Switzerland., Kleefstra T; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands., Gérard B; Molecular Biology, Nouvel Hôpital Civil, Strasbourg, France., Fradin M; Service de Génétique Médicale, Hôpital Sud, CHU de Rennes, Rennes, France., Vitobello A; UMR-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France., Tenconi R; Servizio di Genetica Medica, Dipartimento di Pediatra, Padova, Italia., Denommé-Pichon AS; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Vincent-Devulder A; Génétique Médicale, CHU de Caen, Caen, France., Haack T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Marsh JA; MRC Human Genetics Unit, Western General Hospital, University of Edinburgh, Edinburgh, Scotland, UK., Laulund LW; H C Andersen Children's Hospital, Odense University Hospital, Odense, Denmark., Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Riess A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., de Boer E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Padilla-Lopez S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA., Ostendorf A; Steve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital, Colombus, Ohio, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Colombus, USA., Zweier C; Department of Human Genetics, Inselspital Bern, University of Bern, 3010, Bern, Switzerland.; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany., Smol T; University of Lille, EA7364-RADEME, Medical Genetics Institute, Chu Lille, Lille, France., Willems M; Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Groupe DI, Inserm U1298, INM, Montpellier University, Montpellier, France.; Centre Hospitalier Universitaire de Montpellier, Montpellier, France., Faivre L; UMR1231 GAD, Inserm, Université de Bourgogne-Franche Comté, Dijon, France.; Centre de Référence Maladies Rares « Anomalies du développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD et Institut GIMI, CHU dijon, Bourgogne, Dijon, France., Scala M; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Bagnasco I; Division of Child Neuropsychiatry, Martini Hospital, Torino, Italy., Koboldt D; Steve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital, Colombus, Ohio, USA., Iascone M; Laboratorio Di Genetica Medica, Bergamo, Italy., Suerink M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA., Levy J; Département de Génétique, Hôpital Robert-Debré, Paris, France., Verloes A; Département de Génétique, Hôpital Robert-Debré, Paris, France., Abbott CM; Centre for Genomic and Experimental Medicine and Simons Initiative for the Developing Brain, Institute of Genetics and Cancer, Edinburgh, Scotland, UK., Ruaud L; Département de Génétique, Hôpital Robert-Debré, Paris, France.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Sep; Vol. 32 (9), pp. 1144-1149. Date of Electronic Publication: 2024 Feb 15.