Your browser doesn't support javascript.
loading
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders.
Murcia Pienkowski, Victor; Kucharczyk, Marzena; Mlynek, Marlena; Szczaluba, Krzysztof; Rydzanicz, Malgorzata; Poszewiecka, Barbara; Skórka, Agata; Sykulski, Maciej; Biernacka, Anna; Koppolu, Agnieszka Anna; Posmyk, Renata; Walczak, Anna; Kosinska, Joanna; Krajewski, Pawel; Castaneda, Jennifer; Obersztyn, Ewa; Jurkiewicz, Elzbieta; Smigiel, Robert; Gambin, Anna; Chrzanowska, Krystyna; Krajewska-Walasek, Malgorzata; Ploski, Rafal.
Afiliación
  • Murcia Pienkowski V; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Kucharczyk M; Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland.
  • Mlynek M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Szczaluba K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Poszewiecka B; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Skórka A; Faculty of Mathematics, Informatics and Mechanics, Institute of Informatics, University of Warsaw, Warsaw, Poland.
  • Sykulski M; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Biernacka A; Department of Pediatrics, Medical University of Warsaw, Warsaw, Poland.
  • Koppolu AA; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Posmyk R; genXone, Poznan, Poland.
  • Walczak A; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Kosinska J; Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland.
  • Krajewski P; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Castaneda J; Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland.
  • Obersztyn E; Department of Clinical Genetics, Podlaskie Medical Center, Bialystok, Poland.
  • Jurkiewicz E; Department of Perinatology, Medical University of Bialystok, Bialystok, Poland.
  • Smigiel R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Gambin A; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Chrzanowska K; Department of Forensic Medicine, Medical University of Warsaw, Warsaw, Poland.
  • Krajewska-Walasek M; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Ploski R; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
J Med Genet ; 56(2): 104-112, 2019 02.
Article en En | MEDLINE | ID: mdl-30352868
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Translocación Genética / Proteínas Cromosómicas no Histona / Trastornos de los Cromosomas / Efrina-A5 / Proteína Fosfatasa 2 / Puntos de Rotura del Cromosoma / Secuenciación Completa del Genoma Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Med Genet Año: 2019 Tipo del documento: Article País de afiliación: Polonia
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Translocación Genética / Proteínas Cromosómicas no Histona / Trastornos de los Cromosomas / Efrina-A5 / Proteína Fosfatasa 2 / Puntos de Rotura del Cromosoma / Secuenciación Completa del Genoma Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Med Genet Año: 2019 Tipo del documento: Article País de afiliación: Polonia