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Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
Jacob, Prince; Lindelöf, Hillevi; Rustad, Cecilie F; Sutton, Vernon Reid; Moosa, Shahida; Udupa, Prajna; Hammarsjö, Anna; Bhavani, Gandham SriLakshmi; Batkovskyte, Dominyka; Tveten, Kristian; Dalal, Ashwin; Horemuzova, Eva; Nordgren, Ann; Tham, Emma; Shah, Hitesh; Merckoll, Else; Orellana, Laura; Nishimura, Gen; Girisha, Katta M; Grigelioniene, Giedre.
Afiliación
  • Jacob P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Lindelöf H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Rustad CF; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Sutton VR; Department of Medial Genetics, Oslo University Hospital, Oslo, Norway.
  • Moosa S; Department of Molecular & Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.
  • Udupa P; Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University and Medical Genetics, Tygerberg Hospital, Cape Town, South Africa.
  • Hammarsjö A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Bhavani GS; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Batkovskyte D; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Tveten K; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Dalal A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Horemuzova E; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.
  • Nordgren A; Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India.
  • Tham E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Shah H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Merckoll E; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Orellana L; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.
  • Nishimura G; Institute of Biomedicine, Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden.
  • Girisha KM; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Grigelioniene G; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
NPJ Genom Med ; 8(1): 39, 2023 Nov 22.
Article en En | MEDLINE | ID: mdl-37993442
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: NPJ Genom Med Año: 2023 Tipo del documento: Article País de afiliación: India
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: NPJ Genom Med Año: 2023 Tipo del documento: Article País de afiliación: India