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Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.

Autor: Weiss K; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel. k_weiss@rambam.health.gov.il., Lazar HP; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA., Kurolap A; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Martinez AF; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Paperna T; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Cohen L; Genetics Institute, Schneider Children's Medical Center, Petah Tikva, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Smeland MF; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway., Whalen S; UF de génétique clinique, Centre de Référence Maladies Rares des Anomalies du développement et syndromes malformatifs, APHP, Hôpital Trousseau, Paris, France., Heide S; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs' Hôpital de la Pitié Salpêtrière, Paris, France., Keren B; AP-HP, Département de Génétique, Centre de Référence Maladies Rares 'Anomalies du développement et syndromes malformatifs' Hôpital de la Pitié Salpêtrière, Paris, France., Terhal P; Department of Genetics, Utrecht University Medical Center, Utrecht, the Netherlands., Irving M; Department of Clinical Genetics, Guy's Hospital, London, UK., Takaku M; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA., Roberts JD; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA., Petrovich RM; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA., Vergano SAS; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA, USA., Kenney A; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA., Hove H; Centre for Rare Diseases, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., DeChene E; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Quinonez SC; Department of Pediatrics, Division of Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, MI, USA., Colin E; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France., Ziegler A; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France., Rumple M; Banner Child Neurology, Glendale, AZ, USA., Jain M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Bone and Osteogenesis Imperfecta Department, Kennedy Krieger Institute, Baltimore, MD, USA., Monteil D; Department of Pediatrics, Naval Medical Center Portsmouth, Portsmouth, VA, USA., Roeder ER; Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX, USA., Nugent K; Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX, USA., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Gambello M; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA., Santani A; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Medne L; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Krock B; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Smol T; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille, France.; EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France., Ghoumid J; Department of Clinical Genetics, Lille University Hospital, CHU Lille, Lille, France.; EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France., Parker MJ; Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK., Wright M; Northern Genetics Service, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK., Turnpenny P; University of Exeter Medical School, Clinical Genetics Royal Devon & Exeter Hospital, Exeter, UK., Clayton-Smith J; Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK., Metcalfe K; Institute of Evolution, Systems and Genomics, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK., Kurumizaka H; Laboratory of Structural Biology, Graduate School of Advanced Science & Engineering, Waseda University, Tokyo, Japan., Gelb BD; Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Feldman HB; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Campeau PM; Department of Pediatrics, University of Montreal and CHU Sainte-Justine, Montreal, QC, Canada., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Wade PA; Epigenetics and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA., Lachlan K; Wessex Clinical Genetics Service, University Hospital Southampton NHS Trust. Department of Human Genetics and Genomic Medicine, Southampton University, Southampton, UK.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Mar; Vol. 22 (3), pp. 669.

Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration

Autor: Tanaka, T, Serneo, F F, Higgins, C, Gambello, M J, Wynshaw-Boris, A, Gleeson, J G

Publikováno v: Tanaka, T; Serneo, F F; Higgins, C; Gambello, M J; Wynshaw-Boris, A; & Gleeson, J G. (2004). Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration. Journal of Cell Biology, 165(5), 709-721. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/1sj2607t

Humans with mutations in either DCX or LIS1 display nearly identical neuronal migration defects, known as lissencephaly. To define subcellular mechanisms, we have combined in vitro neuronal migration assays with retroviral transduction. Overexpressio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::9e5e287d71bf095f76c67290a6ebbf52
http://www.escholarship.org/uc/item/1sj2607t

Pain and fatigue in adult patients with multiple osteochondromas: The Netherlands.

Autor: Amajjar, Ihsane^1,2 (AUTHOR) i.amajjar@olvg.nl, Vergauwen, Kuni^2,3,4,5 (AUTHOR), Willigenburg, Nienke W.¹ (AUTHOR), Ham, S. John¹ (AUTHOR), Smeets, Rob J. E. M.^3,5,6 (AUTHOR)

Publikováno v: PLoS ONE. 7/17/2024, Vol. 19 Issue 7, p1-16. 16p.

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