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The Value of Chromosome Analysis to Interrogate Variants in DNMT3B Causing Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome Type I (ICF1).
Kellner, Erinn S; Rathbun, Pamela A; Marshall, Gary S; Tolusso, Leandra K; Smolarek, Teresa A; Sun, Miao; Chandra, Sharat; Bleesing, Jack; Marsh, Rebecca A.
Afiliação
  • Kellner ES; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. erinn.kellner@cchmc.org.
  • Rathbun PA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Marshall GS; Division of Pediatric Infectious Diseases, University of Louisville School of Medicine, Louisville, KY, USA.
  • Tolusso LK; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Smolarek TA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Sun M; Department of Pediatrics, University of Cincinnati, Cincinnati, OH, USA.
  • Chandra S; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Bleesing J; Department of Pediatrics, University of Cincinnati, Cincinnati, OH, USA.
  • Marsh RA; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
J Clin Immunol ; 39(8): 857-859, 2019 11.
Article em En | MEDLINE | ID: mdl-31686314
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Aberrações Cromossômicas / DNA (Citosina-5-)-Metiltransferases / Face / Doenças da Imunodeficiência Primária / Cariotipagem Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Aberrações Cromossômicas / DNA (Citosina-5-)-Metiltransferases / Face / Doenças da Imunodeficiência Primária / Cariotipagem Tipo de estudo: Prognostic_studies Limite: Female / Humans / Infant Idioma: En Ano de publicação: 2019 Tipo de documento: Article