المؤلفون: Natalia Yarovaya, Rachel Schot, Lisa Fodero, Michelle McMahon, Alexis Mahoney, Rachael Williams, Elly Verbeek, An de Bondt, Mark Hampson, Peter van der Spek, Andrew Stubbs, Colin L. Masters, Frans W. Verheijen, Grazia M.S. Mancini, Deon J. Venter

المصدر: Neurobiology of Disease, Vol 19, Iss 3, Pp 351-365 (2005)

مصطلحات موضوعية: Salla disease, Infantile sialic acid storage disease, Lysosomal storage diseases, Central nervous system, Immunohistochemistry, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996104003250Test; https://doaj.org/toc/1095-953XTest

الوصول الحر: https://doaj.org/article/847dbb17b0aa40a8a680b6ee4ddf510aTest

المؤلفون: Jordy Dekker, Rachel Schot, Michiel Bongaerts, Walter G. de Valk, Monique M. van Veghel-Plandsoen, Kathryn Monfils, Hannie Douben, Peter Elfferich, Esmee Kasteleijn, Leontine M.A. van Unen, Geert Geeven, Jasper J. Saris, Yvette van Ierland, Frans W. Verheijen, Marianne L.T. van der Sterre, Farah Sadeghi Niaraki, Daphne J. Smits, Hidde H. Huidekoper, Monique Williams, Martina Wilke, Virginie J.M. Verhoeven, Marieke Joosten, Anneke J.A. Kievit, Ingrid M.B.H. van de Laar, Lies H. Hoefsloot, Marianne Hoogeveen-Westerveld, Mark Nellist, Grazia M.S. Mancini, Tjakko J. van Ham

المساهمون: Clinical Genetics, Erasmus MC other, Pediatrics, Emergency Medicine

المصدر: American Journal of Human Genetics, 110(2), 251-272. Cell Press

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77e91c5b19bb7b0e62a630a2aed65e87Test
https://doi.org/10.1016/j.ajhg.2022.12.015Test

المؤلفون: Sébastien Küry, Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Virginie Vignard, Tiphaine Hery, Mathilde Nizon, Grazia M.S. Mancini, Jacques C. Giltay, Benjamin Cogné, Kirsty McWalter, Wallid Deb, Hagar Mor-Shaked, Hong Li, Rhonda E. Schnur, Ingrid M. Wentzensen, Anne-Sophie Denommé-Pichon, Cynthia Fourgeux, Frans W. Verheijen, Eva Faurie, Rachel Schot, Cathy A. Stevens, Daphne J. Smits, Eileen Barr, Ruth Sheffer, Jonathan A. Bernstein, Chandler L. Stimach, Eliana Kovitch, Vandana Shashi, Kelly Schoch, Whitney Smith, Richard H. van Jaarsveld, Anna C.E. Hurst, Kirstin Smith, Evan H. Baugh, Suzanne G. Bohm, Emílie Vyhnálková, Lukáš Ryba, Capucine Delnatte, Juanita Neira, Dominique Bonneau, Annick Toutain, Jill A. Rosenfeld, Séverine Audebert-Bellanger, Brigitte Gilbert-Dussardier, Sylvie Odent, Frédéric Laumonnier, Seth I. Berger, Ann C.M. Smith, Franck Bourdeaut, Marc-Henri Stern, Richard Redon, Elke Krüger, Raphaël Margueron, Stéphane Bézieau, Jeremie Poschmann, Bertrand Isidor

المساهمون: Centre hospitalier universitaire de Nantes (CHU Nantes), unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Universität Greifswald - University of Greifswald, Centre de Recherche en Transplantation et Immunologie - Center for Research in Transplantation and Translational Immunology (U1064 Inserm - CR2TI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Génétique et Biologie du Développement, Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Erasmus University Medical Center [Rotterdam] (Erasmus MC), University Medical Center [Utrecht], GeneDx [Gaithersburg, MD, USA], Hadassah Hebrew University Medical Center [Jerusalem], Emory University School of Medicine, Emory University [Atlanta, GA], Laboratoire de Biologie Neurovasculaire Intégrée [Angers] (CNRS UMR6214 - INSERM U771), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Faculté de Médecine d'Angers, MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University of Tennessee System, Stanford University, Duke University Medical Center, University of Alabama at Birmingham [ Birmingham] (UAB), Columbia University [New York], Charles University [Prague] (CU), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Baylor College of Medicine (BCM), Baylor University, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Unité neurovasculaire et troubles cognitifs (Neuvacod), Université de Poitiers, CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre de référence Maladies Rares CLAD-Ouest [Rennes], Children's National Medical Center, National Human Genome Research Institute (NHGRI), Institut Curie [Paris], Unité de génétique et biologie des cancers (U830), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Greifswald University Hospital, Research reported in this manuscript was supported by the NIH Common Fund through the Office of Strategic Coordination/Office of the NIH Director under award number U01HG007672 to V.S. Further support was obtained by funding from the German Research Foundation (SFBTR 167 A4, GRK2719 B4) to E.K, Clinical Genetics

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 2022, 109 (2), pp.361-372. ⟨10.1016/j.ajhg.2021.12.011⟩
American Journal of Human Genetics, 109(2), 361-372. Cell Press
Am J Hum Genet

مصطلحات موضوعية: Male, Heterozygote, Proteasome Endopeptidase Complex, tumor, Adolescent, T-Lymphocytes, Ubiquitin-Protein Ligases, [SDV]Life Sciences [q-bio], Mutation, Missense, UPS, ubiquitin-proteasome system, chromatin remodeling, Histones, SDG 3 - Good Health and Well-being, Loss of Function Mutation, Report, ubiquitin, Genetics, Humans, cancer, Family, BAP1, Child, deubiquitination, Germ-Line Mutation, Genetics (clinical), [SDV.GEN]Life Sciences [q-bio]/Genetics, neurodevelopment, BRCA1 Protein, Tumor Suppressor Proteins, Ubiquitination, Infant, Chromatin Assembly and Disassembly, BRCA1, Chromatin, Gene Expression Regulation, Neurodevelopmental Disorders, intellectual disability, Child, Preschool, histone 2A, Female, Host Cell Factor C1, Ubiquitin Thiolesterase

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30291939060519e6db8780d53aed2befTest
https://doi.org/10.1016/j.ajhg.2021.12.011Test

المؤلفون: Renske Oegema, David Baillat, Rachel Schot, Leontine M van Unen, Alice Brooks, Sima Kheradmand Kia, A Jeannette M Hoogeboom, Zheng Xia, Wei Li, Matteo Cesaroni, Maarten H Lequin, Marjon van Slegtenhorst, William B Dobyns, Irenaeus F M de Coo, Debbie van den Berg, Frans W Verheijen, Andreas Kremer, Peter J van der Spek, Daphne Heijsman, Eric J Wagner, Maarten Fornerod, Grazia M S Mancini

المصدر: PLoS Genetics, Vol 13, Iss 8, p e1006923 (2017)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC5538630?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test

الوصول الحر: https://doaj.org/article/3a3afe24956e482688a3d4aa5b6b3abbTest

المؤلفون: Jordy Dekker, Rachel Schot, Michiel Bongaerts, Walter G. de Valk, Monique M. van Veghel-Plandsoen, Kathryn Monfils, Hannie Douben, Peter Elfferich, Esmee Kasteleijn, Leontine M.A. van Unen, Geert Geeven, Jasper J. Saris, Yvette van Ierland, Frans W. Verheijen, Marianne L.T. van der Sterre, Farah Sadeghi Niaraki, Hidde H. Huidekoper, Monique Williams, Martina Wilke, Virginie J.M. Verhoeven, Marieke Joosten, Anneke J.A. Kievit, Ingrid M.B.H. van de Laar, Lies H. Hoefsloot, Marianne Hoogeveen-Westerveld, Mark Nellist, Grazia M.S. Mancini, Tjakko J. van Ham

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ee2b82c8a4be21763479fc788e4621edTest
https://doi.org/10.1101/2022.06.05.22275956Test

المؤلفون: Renske Oegema, David Baillat, Rachel Schot, Leontine M van Unen, Alice Brooks, Sima Kheradmand Kia, A Jeannette M Hoogeboom, Zheng Xia, Wei Li, Matteo Cesaroni, Maarten H Lequin, Marjon van Slegtenhorst, William B Dobyns, Irenaeus F M de Coo, Frans W Verheijen, Andreas Kremer, Peter J van der Spek, Daphne Heijsman, Eric J Wagner, Maarten Fornerod, Grazia M S Mancini

المصدر: PLoS Genetics, Vol 13, Iss 5, p e1006809 (2017)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC5466333?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test

الوصول الحر: https://doaj.org/article/af63fe74d10344f78122a961db9962c3Test

المؤلفون: Atze J Bergsma, Stijn LM in ‘t Groen, Frans W Verheijen, Ans T van der Ploeg, WWM Pim Pijnappel

المصدر: Molecular Therapy: Nucleic Acids, Vol 5, Iss C (2016)

مصطلحات موضوعية: cryptic splice site, morpholino antisense oligonucleotides, muscle, Pompe disease, splicing correction, Therapeutics. Pharmacology, RM1-950

العلاقة: http://www.sciencedirect.com/science/article/pii/S2162253117300938Test; https://doaj.org/toc/2162-2531Test; https://doaj.org/article/21b185817ba048d4b3e76435acd070cbTest

الإتاحة: https://doi.org/10.1038/mtna.2016.75Test
https://doaj.org/article/21b185817ba048d4b3e76435acd070cbTest

المؤلفون: Lynn Pais, Anna Pelet, Wilhelmina S. Kerstjens-Frederikse, Christine Bole-Feysot, Yunia Sribudiani, Stanislas Lyonnet, Natasha Shur, Valérie Cormier-Daire, Louise Galmiche, Cécile Masson, Christopher T. Gordon, Chelsea Kois, Céline Huber, John A. Pugh, Simon Sadedin, Thuy-Linh Le, Nicolas Goudin, Tania Attié-Bitach, Susan M. White, Tiong Yang Tan, Geneviève Baujat, Valérie Serre, Xiaomin Dong, Mohammed Zarhrate, Patrick Nitschke, Jeanne Amiel, John Christodoulou, Frans W. Verheijen, Sophie Thomas, R Hofstra, Salima El Chehadeh, Valerie Mayne

المساهمون: Université Paris Cité (UPC), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC), Embryology and genetics of human malformation (Equipe Inserm U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC), Molecular and Physiopathological bases of osteochondrodysplasia - Bases moléculaires et physiopathologiques des ostéochondrodysplasies (Equipe Inserm U1163), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Jacques Monod (IJM (UMR_7592)), Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPC), Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPC), Genetics and Development of the Cerebral Cortex (Equipe Inserm U1163), Université de Paris (UP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Université de Paris (UP)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Clinical Genetics

المصدر: American Journal of Human Genetics, 106(6), 779-792. CELL PRESS
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.779-792. ⟨10.1016/j.ajhg.2020.04.010⟩
Am J Hum Genet
American Journal of Human Genetics, 106(6), 779-792. Cell Press

مصطلحات موضوعية: 0301 basic medicine, Male, Models, Molecular, Developmental Disabilities, [SDV]Life Sciences [q-bio], HIRSCHSPRUNG DISEASE, INTRAFLAGELLAR TRANSPORT PROTEIN, ACTIVATION, 0302 clinical medicine, Neoplasms, Sonic hedgehog, Child, Genetics (clinical), Nuclear Proteins, PRIMARY CILIUM, Smoothened Receptor, Hedgehog signaling pathway, Cell biology, Pedigree, Child, Preschool, Female, Signal Transduction, Patched, Nerve Tissue Proteins, Biology, Zinc Finger Protein Gli2, Article, 03 medical and health sciences, HYPOTHALAMIC HAMARTOMA, Zinc Finger Protein Gli3, GLI2, Ciliogenesis, NERVOUS-SYSTEM DEVELOPMENT, Genetics, Humans, Hedgehog Proteins, Cilia, Hedgehog, Alleles, Base Sequence, SONIC HEDGEHOG, MUTATIONS, Infant, CILIARY, 030104 developmental biology, biology.protein, Smoothened, 030217 neurology & neurosurgery, GLI

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1003cc76f77d065c02f6683353a2e2fcTest
https://hdl.handle.net/11370/f3efaa11-0ef7-4727-9a41-8f2f87fed566Test

المؤلفون: Thilo Dörk, Kristine Bousset, Grazia M.S. Mancini, Filippo Beleggia, Marie-Claire Y. de Wit, Aviël Ragamin, Tim M. Strom, Bernd Wollnik, Gökhan Yigit, Frans W. Verheijen

المساهمون: Clinical Genetics, Neurology

المصدر: American Journal of Medical Genetics. Part a
American Journal of Medical Genetics, Part A, 182(6), 1378-1386. Wiley-Liss Inc.
Am. J. Med. Genet. A 182, 1378-1386 (2020)

مصطلحات موضوعية: DNA repair, Cell Cycle Proteins, Biology, 03 medical and health sciences, Exon, Nijmegen breakage syndrome‐like disorder, Ataxia Telangiectasia, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Genetics, medicine, Humans, DNA Breaks, Double-Stranded, microcephaly, Child, Nijmegen Breakage Syndrome, MRN complex, Genetics (clinical), Alleles, Growth Disorders, 030304 developmental biology, 0303 health sciences, MRE11 Homologue Protein, Dna Repair, Microcephaly, Mrn Complex, Nijmegen Breakage Syndrome-like Disorder, Rad50, Infant, Newborn, Infant, Nuclear Proteins, Original Articles, medicine.disease, DNA Repair-Deficiency Disorders, 3. Good health, Acid Anhydride Hydrolases, Pedigree, Non-homologous end joining, DNA-Binding Proteins, enzymes and coenzymes (carbohydrates), Child, Preschool, Ataxia-telangiectasia, RAD50, Original Article, Female, biological phenomena, cell phenomena, and immunity, Homologous recombination, 030217 neurology & neurosurgery, Nijmegen breakage syndrome

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5681f2328ead3c3d1e4f66d46d26135aTest
https://pure.eur.nl/en/publications/084bd471-cf8d-467a-9aa5-32da60ba7657Test

المؤلفون: Daphne J. Smits, Maarten Fornerod, Tjakko J. van Ham, Marie Claire Y. de Wit, Marjolein H G Dremmen, Grazia M.S. Mancini, Maarten H. Lequin, Martina Wilke, William B. Dobyns, Rachel Schot, Jordy Dekker, Alice S. Brooks, Frans W. Verheijen

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 35

مصطلحات موضوعية: DNA Copy Number Variations, media_common.quotation_subject, General Medicine, Geneticist, Data science, Presentation, Multidisciplinary approach, Pediatrics, Perinatology and Child Health, Exome Sequencing, Relevance (law), Humans, Abnormalities, Multiple, Exome, Neurology (clinical), Copy-number variation, Disease management (health), Psychology, Child, Exome sequencing, Genetic Association Studies, media_common

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fca83783ff0b41e79f130745b6296ef5Test
https://pubmed.ncbi.nlm.nih.gov/34592643Test