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Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.

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Title: Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
Authors: 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.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Rustad CF; Department of Medial Genetics, Oslo University Hospital, Oslo, Norway., Sutton VR; Department of Molecular & Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA., Moosa S; Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University and Medical Genetics, Tygerberg Hospital, Cape Town, South Africa., Udupa P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Hammarsjö A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Bhavani GS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Batkovskyte D; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Dalal A; Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India., Horemuzova E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Nordgren A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Institute of Biomedicine, Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden., Tham E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Shah H; Department of Pediatric Orthopedics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Merckoll E; Department of Radiology, Oslo University Hospital, Oslo, Norway., Orellana L; Protein Dynamics and Mutation lab, Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden., Nishimura G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. girish.katta@manipal.edu., Grigelioniene G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. giedre.grigelioniene@ki.se.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. giedre.grigelioniene@ki.se.
Source: NPJ genomic medicine [NPJ Genom Med] 2023 Nov 22; Vol. 8 (1), pp. 39. Date of Electronic Publication: 2023 Nov 22.
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
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  Data: <searchLink fieldCode="AU" term="%22Jacob+P%22">Jacob P</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.<br /><searchLink fieldCode="AU" term="%22Lindelöf+H%22">Lindelöf H</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Rustad+CF%22">Rustad CF</searchLink>; Department of Medial Genetics, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Sutton+VR%22">Sutton VR</searchLink>; Department of Molecular & Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Moosa+S%22">Moosa S</searchLink>; Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University and Medical Genetics, Tygerberg Hospital, Cape Town, South Africa.<br /><searchLink fieldCode="AU" term="%22Udupa+P%22">Udupa P</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.<br /><searchLink fieldCode="AU" term="%22Hammarsjö+A%22">Hammarsjö A</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Bhavani+GS%22">Bhavani GS</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.<br /><searchLink fieldCode="AU" term="%22Batkovskyte+D%22">Batkovskyte D</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Tveten+K%22">Tveten K</searchLink>; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Dalal+A%22">Dalal A</searchLink>; Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Horemuzova+E%22">Horemuzova E</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Nordgren+A%22">Nordgren A</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Institute of Biomedicine, Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden.<br /><searchLink fieldCode="AU" term="%22Tham+E%22">Tham E</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Shah+H%22">Shah H</searchLink>; Department of Pediatric Orthopedics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.<br /><searchLink fieldCode="AU" term="%22Merckoll+E%22">Merckoll E</searchLink>; Department of Radiology, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Orellana+L%22">Orellana L</searchLink>; Protein Dynamics and Mutation lab, Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Nishimura+G%22">Nishimura G</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Girisha+KM%22">Girisha KM</searchLink>; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. girish.katta@manipal.edu.<br /><searchLink fieldCode="AU" term="%22Grigelioniene+G%22">Grigelioniene G</searchLink>; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. giedre.grigelioniene@ki.se.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. giedre.grigelioniene@ki.se.
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  Data: <searchLink fieldCode="JN" term="%22101685193%22">NPJ genomic medicine</searchLink> [NPJ Genom Med] 2023 Nov 22; Vol. 8 (1), pp. 39. <i>Date of Electronic Publication: </i>2023 Nov 22.
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