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Long-term outcomes in ALG13-Congenital Disorder of Glycosylation.
Shah, Rameen; Johnsen, Christin; Pletcher, Beth A; Edmondson, Andrew C; Kozicz, Tamas; Morava, Eva.
Afiliación
  • Shah R; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.
  • Johnsen C; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA.
  • Pletcher BA; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.
  • Edmondson AC; Department of Pediatrics, University Clinic of Göttingen, Göttingen, Germany.
  • Kozicz T; Department of Pediatrics, Rutgers New Jersey Medical School, Newark, New Jersey, USA.
  • Morava E; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Am J Med Genet A ; 191(6): 1626-1631, 2023 06.
Article en En | MEDLINE | ID: mdl-36930724
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedades Óseas Metabólicas / Pérdida Auditiva Unilateral / Discapacidad Intelectual Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedades Óseas Metabólicas / Pérdida Auditiva Unilateral / Discapacidad Intelectual Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article