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Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.
Tallgren, Antti; Kager, Leo; O'Grady, Gina; Tuominen, Hannu; Körkkö, Jarmo; Kuismin, Outi; Feucht, Martha; Wilson, Callum; Behunova, Jana; England, Eleina; Kurki, Mitja I; Palotie, Aarno; Hallman, Mikko; Kaarteenaho, Riitta; Laccone, Franco; Boztug, Kaan; Hinttala, Reetta; Uusimaa, Johanna.
Afiliación
  • Tallgren A; Research Unit of Clinical Medicine and Medical Research Center, Oulu University Hospital, University of Oulu, Oulu, Finland.
  • Kager L; St. Anna Children's Hospital, Vienna, Austria.
  • O'Grady G; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
  • Tuominen H; St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.
  • Körkkö J; Paediatric Neuroservices, Starship Children's Health, Te Whatu Ora Health New Zealand, Auckland, New Zealand.
  • Kuismin O; Department of Pathology, Oulu University Hospital, University of Oulu, Oulu, Finland.
  • Feucht M; Center for Intellectual Disability Care, Oulu University Hospital, Oulu, Finland.
  • Wilson C; Research Unit of Clinical Medicine and Medical Research Center, Oulu University Hospital, University of Oulu, Oulu, Finland.
  • Behunova J; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland.
  • England E; Department of Paediatrics, Center for Rare and Complex Epilepsies, Medical University of Vienna, Vienna, Austria.
  • Kurki MI; National Metabolic Service, Auckland City Hospital, Auckland, New Zealand.
  • Palotie A; Department of Medical Genetics, Medical University of Vienna, Vienna, Austria.
  • Hallman M; Mendelian Genomics, Programme in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.
  • Kaarteenaho R; Programme in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.
  • Laccone F; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, United States.
  • Boztug K; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, United States.
  • Hinttala R; Programme in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.
  • Uusimaa J; Psychiatric and Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, MA, United States.
Front Neurosci ; 17: 1123327, 2023.
Article en En | MEDLINE | ID: mdl-37179546
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Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Screening_studies Idioma: En Revista: Front Neurosci Año: 2023 Tipo del documento: Article País de afiliación: Finlandia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Screening_studies Idioma: En Revista: Front Neurosci Año: 2023 Tipo del documento: Article País de afiliación: Finlandia