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Identification of an NF1 Microdeletion with Optical Genome Mapping.
Büki, Gergely; Beko, Anna; Bödör, Csaba; Urbán, Péter; Németh, Krisztina; Hadzsiev, Kinga; Fekete, György; Kehrer-Sawatzki, Hildegard; Bene, Judit.
Afiliación
  • Büki G; Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7624 Pécs, Hungary.
  • Beko A; HCEMM-SE Molecular Oncohematology Research Group, Department of Pathology and Experimental Cancer Research, Semmelweis University, 1085 Budapest, Hungary.
  • Bödör C; HCEMM-SE Molecular Oncohematology Research Group, Department of Pathology and Experimental Cancer Research, Semmelweis University, 1085 Budapest, Hungary.
  • Urbán P; Bioinformatics Research Group, Genomics and Bioinformatics Core Facility, Szentágothai Research Centre, University of Pécs, 7624 Pécs, Hungary.
  • Németh K; Pediatric Center, Tuzoltó Street Department, Faculty of Medicine, Semmelweis University, 1094 Budapest, Hungary.
  • Hadzsiev K; Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7624 Pécs, Hungary.
  • Fekete G; Pediatric Center, Tuzoltó Street Department, Faculty of Medicine, Semmelweis University, 1094 Budapest, Hungary.
  • Kehrer-Sawatzki H; Institut of Human Genetics, University of Ulm, 89081 Ulm, Germany.
  • Bene J; Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7624 Pécs, Hungary.
Int J Mol Sci ; 24(17)2023 Sep 01.
Article en En | MEDLINE | ID: mdl-37686382
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neurofibromatosis 1 / Megalencefalia Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Int J Mol Sci Año: 2023 Tipo del documento: Article País de afiliación: Hungria
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neurofibromatosis 1 / Megalencefalia Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Int J Mol Sci Año: 2023 Tipo del documento: Article País de afiliación: Hungria