Your browser doesn't support javascript.
loading
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Veltra, Danai; Tilemis, Faidon-Nikolaos; Marinakis, Nikolaos M; Svingou, Maria; Mitrakos, Anastasios; Kosma, Konstantina; Tsoutsou, Irene; Makrythanasis, Periklis; Theodorou, Virginia; Katsalouli, Marina; Vorgia, Pelagia; Niotakis, Georgios; Vartzelis, Georgios; Dinopoulos, Argirios; Evangeliou, Athanasios; Mouskou, Stella; Korona, Anastasia; Mastroyianni, Sotiria; Papavasiliou, Antigone; Tzetis, Maria; Pons, Roser; Traeger-Synodinos, Joanne; Sofocleous, Christalena.
Afiliación
  • Veltra D; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.
  • Tilemis FN; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.
  • Marinakis NM; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.
  • Svingou M; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.
  • Mitrakos A; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.
  • Kosma K; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.
  • Tsoutsou I; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.
  • Makrythanasis P; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.
  • Theodorou V; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.
  • Katsalouli M; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.
  • Vorgia P; Department of Genetic Medicine and Development, Medical School, University of Geneva, Geneva, Switzerland.
  • Niotakis G; Biomedical Research Foundation of the Academy of Athens, Athens, Greece.
  • Vartzelis G; Pediatric Neurology Department, St. Sophia's Children's Hospital, Athens, Greece.
  • Dinopoulos A; Pediatric Neurology Department, St. Sophia's Children's Hospital, Athens, Greece.
  • Evangeliou A; Agrifood and Life Sciences Institute, Hellenic Mediterranean University, Heraklion, Crete, Greece.
  • Mouskou S; Pediatric Neurology Department, Venizelion Hospital, Heraklion, Greece.
  • Korona A; Second Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, P. & A. Kyriakou Children's Hospital, Athens, Greece.
  • Mastroyianni S; Forth Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, General Hospital of Athens Attikon, Athens, Greece.
  • Papavasiliou A; Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, Greece.
  • Tzetis M; Pediatric Neurology Department, P. & A. Kyriakou Children's Hospital, Athens, Greece.
  • Pons R; Pediatric Neurology Department, P. & A. Kyriakou Children's Hospital, Athens, Greece.
  • Traeger-Synodinos J; Pediatric Neurology Department, P. & A. Kyriakou Children's Hospital, Athens, Greece.
  • Sofocleous C; Department of Pediatric Neurology, Iaso Children's Hospital, Marousi, Greece.
Expert Rev Mol Diagn ; 23(1): 85-103, 2023 01.
Article en En | MEDLINE | ID: mdl-36714946
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Epilepsia / Exoma Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Expert Rev Mol Diagn Asunto de la revista: BIOLOGIA MOLECULAR Año: 2023 Tipo del documento: Article País de afiliación: Grecia
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Epilepsia / Exoma Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Expert Rev Mol Diagn Asunto de la revista: BIOLOGIA MOLECULAR Año: 2023 Tipo del documento: Article País de afiliación: Grecia