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CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.
Badura-Stronka, Magdalena; Winczewska-Wiktor, Anna; Pietrzak, Anna; Hirschfeld, Adam Sebastian; Zemojtel, Tomasz; Wolynska, Katarzyna; Bednarek-Rajewska, Katarzyna; Seget-Dubaniewicz, Monika; Matheisel, Agnieszka; Latos-Bielenska, Anna; Steinborn, Barbara.
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  • Badura-Stronka M; Chair and Department of Medical Genetics, Poznan University of Medical Sciences, 60-352 Poznan, Poland.
  • Winczewska-Wiktor A; Chair and Department of Developmental Neurology, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
  • Pietrzak A; Department of Neurology, 10th Military Research Hospital and Polyclinic, 85-681 Bydgoszcz, Poland.
  • Hirschfeld AS; Chair and Department of Medical Genetics, Poznan University of Medical Sciences, 60-352 Poznan, Poland.
  • Zemojtel T; BIH Genomics Core Unit, Campus Mitte, Charite University Medicine, 13353 Berlin, Germany.
  • Wolynska K; Chair and Department of Medical Genetics, Poznan University of Medical Sciences, 60-352 Poznan, Poland.
  • Bednarek-Rajewska K; Department of Clinical Pathology, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
  • Seget-Dubaniewicz M; Department of Clinical Pathology, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
  • Matheisel A; Department of Developmental Neurology, Gdansk Medical University, 80-307 Gdansk, Poland.
  • Latos-Bielenska A; Chair and Department of Medical Genetics, Poznan University of Medical Sciences, 60-352 Poznan, Poland.
  • Steinborn B; Chair and Department of Developmental Neurology, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
Genes (Basel) ; 12(7)2021 06 23.
Article en En | MEDLINE | ID: mdl-34201538
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Proteínas de la Membrana / Lipofuscinosis Ceroideas Neuronales Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Polonia
Texto completo
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XML
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Proteínas de la Membrana / Lipofuscinosis Ceroideas Neuronales Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Polonia