Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Axtell, D."'
Autor:
Kline, A.D., Moss, J.F., Selicorni, A., Bisgaard, A.M., Deardorff, M.A., Gillett, P.M., Ishman, S.L., Kerr, L.M., Levin, A.V., Mulder, P.A., Ramos, F.J., Wierzba, Jl, Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F.J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J.P., Menke, L.A., Metrena, A, O'Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C.J., Quaglio, A.L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I.D.C., Hennekam, R.C.
Publikováno v:
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
instname
Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::72dda7662033c077666a24fd9297d355
http://zaguan.unizar.es/record/75698
http://zaguan.unizar.es/record/75698
Publikováno v:
Journal of Coordination Chemistry; Jun1978, Vol. 8 Issue 2, p113-115, 3p
Autor:
Hugh Burrows, Axtell, D. D.
Publikováno v:
Scopus-Elsevier
CIÊNCIAVITAE
CIÊNCIAVITAE
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0bf79c81b92bf25d7c42f9bce7c0af76
http://www.scopus.com/inward/record.url?eid=2-s2.0-0346868539&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0346868539&partnerID=MN8TOARS
Autor:
Kline AD; Harvey Institute of Human Genetics, Greater Baltimore Medical Centre, Baltimore, MD, USA., Moss JF; Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK., Selicorni A; Department of Paediatrics, Presidio S. Femro, ASST Lariana, Como, Italy., Bisgaard AM; Kennedy Centre, Department of Paediatrics and Adolescent Medicine, Rigshospitalet, Glostrup, Denmark., Deardorff MA; Division of Human Genetics, Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Gillett PM; GI Department, Royal Hospital for Sick Children, Edinburgh, Scotland, UK., Ishman SL; Departments of Otolaryngology and Pulmonary Medicine, Cincinnati Children's Hospital Medical Centre, University of Cincinnati, Cincinnati, OH, USA., Kerr LM; Division of Pediatric Neurology, Department of Paediatrics, University of Utah Medical Centre, Salt Lake City, UT, USA., Levin AV; Paediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA, USA., Mulder PA; Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, Netherlands., Ramos FJ; Unit of Clinical Genetics, Paediatrics, University Clinic Hospital 'Lozano Blesa' CIBERER-GCV02 and ISS-Aragón, Department of Pharmacology-Physiology and Paediatrics, School of Medicine, University of Zaragoza, Zaragoza, Spain., Wierzba J; Department of Paediatrics, Haematology and Oncology, Department of General Nursery, Medical University of Gdansk, Gdansk, Poland., Ajmone PF; Child and Adolescent Neuropsychiatric Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy., Axtell D; CdLS Foundation UK and Ireland, The Tower, North Stifford, Grays, Essex, UK., Blagowidow N; Harvey Institute of Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA., Cereda A; Department of Paediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy., Costantino A; Child and Adolescent Neuropsychiatric Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy., Cormier-Daire V; Department of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Paris, France., FitzPatrick D; Human Genetics Unit, Medical and Developmental Genetics, University of Edinburgh Western General Hospital, Edinburgh, Scotland, UK., Grados M; Division of Child and Adolescent Psychiatry, John Hopkins University School of Medicine, Baltimore, MD, USA., Groves L; Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK., Guthrie W; Centre for Autism Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Huisman S; Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands., Kaiser FJ; Section for Functional Genetics, Institute for Human Genetics, University of Lübeck, Lübeck, Germany., Koekkoek G; CdLS World Federation's, Hertogenbosch, Netherlands., Levis M; Wicomico County Board of Education, Salisbury, MD, USA., Mariani M; Clinical Paediatric Genetics Unit, Paediatrics Clinics, MBBM Foundation, S. Gerardo Hospital, Monza, Italy., McCleery JP; Centre for Autism Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Menke LA; Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands., Metrena A; Danbury Public Schools, Danbury, CT, USA., O'Connor J; Kennedy Krieger Institute, Johns Hopkins School of Medicine, Baltimore, MD, USA., Oliver C; Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK., Pie J; Unit of Clinical Genetics, Paediatrics, University Clinic Hospital 'Lozano Blesa' CIBERER-GCV02 and ISS-Aragón, Department of Pharmacology-Physiology and Paediatrics, School of Medicine, University of Zaragoza, Zaragoza, Spain., Piening S; Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, Netherlands., Potter CJ; Department of Gastroenterology, Nationwide Children's, Columbus, OH, USA., Quaglio AL; Genética Médica, Hospital del Este, Eva Perón, Tucumán, Argentina., Redeker E; Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands., Richman D; Department of Educational Psychology and Leadership, Texas Tech University, Lubbock, TX, USA., Rigamonti C; Child and Adolescent Neuropsychiatric Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy., Shi A; The Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, USA., Tümer Z; Kennedy Centre, Department of Paediatrics and Adolescent Medicine, Rigshospitalet, Glostrup, Denmark., Van Balkom IDC; Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, Netherlands.; Rob Giel Research Centre, Department of Psychiatry, University Medical Centre Groningen, Groningen, Netherlands., Hennekam RC; Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands. r.c.hennekam@amc.uva.nl.
Publikováno v:
Nature reviews. Genetics [Nat Rev Genet] 2018 Oct; Vol. 19 (10), pp. 649-666.
Autor:
Baker SC; Department of Microbiology and Immunology, Loyola University of Chicago, Stritch School of Medicine, Maywood, IL, USA., Kanjanahaluethai A, Sherer NM, Axtell DD, Schiller JJ
Publikováno v:
Advances in experimental medicine and biology [Adv Exp Med Biol] 2001; Vol. 494, pp. 283-9.