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Chromoanasynthesis as a cause of Jacobsen syndrome.
Anzick, Sarah; Thurm, Audrey; Burkett, Sandra; Velez, Daniel; Cho, Elena; Chlebowski, Colby; Virtaneva, Kimmo; Bruno, Daniel; Martin, Clare B; Lang, David M; Brooks, Brian; Martens, Craig; McDermott, David H; Murphy, Philip M.
Affiliation
  • Anzick S; Research Technology Branch, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA.
  • Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, NIH, Bethesda, Maryland, USA.
  • Burkett S; Comparative Molecular Cytogenetics Core Facility, Frederick National Laboratory for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland, USA.
  • Velez D; Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA.
  • Cho E; Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA.
  • Chlebowski C; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, NIH, Bethesda, Maryland, USA.
  • Virtaneva K; Research Technology Branch, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA.
  • Bruno D; Research Technology Branch, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA.
  • Martin CB; Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA.
  • Lang DM; Pediatric Consult Service, Warren Grant Magnuson Clinical Center, NIH, Bethesda, Maryland, USA.
  • Brooks B; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, Maryland, USA.
  • Martens C; Research Technology Branch, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA.
  • McDermott DH; Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA.
  • Murphy PM; Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, USA.
Am J Med Genet A ; 182(11): 2533-2539, 2020 11.
Article de En | MEDLINE | ID: mdl-32841469

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Malformations crâniofaciales / Syndrome de Jacobsen / Déficience intellectuelle Limites: Child / Humans / Male Langue: En Journal: Am J Med Genet A Sujet du journal: GENETICA MEDICA Année: 2020 Type de document: Article Pays d'affiliation: États-Unis d'Amérique Pays de publication: États-Unis d'Amérique

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Malformations crâniofaciales / Syndrome de Jacobsen / Déficience intellectuelle Limites: Child / Humans / Male Langue: En Journal: Am J Med Genet A Sujet du journal: GENETICA MEDICA Année: 2020 Type de document: Article Pays d'affiliation: États-Unis d'Amérique Pays de publication: États-Unis d'Amérique