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Comprehensive genomic analysis of patients with disorders of cerebral cortical development.
Wiszniewski, Wojciech; Gawlinski, Pawel; Gambin, Tomasz; Bekiesinska-Figatowska, Monika; Obersztyn, Ewa; Antczak-Marach, Dorota; Akdemir, Zeynep Hande Coban; Harel, Tamar; Karaca, Ender; Jurek, Marta; Sobecka, Katarzyna; Nowakowska, Beata; Kruk, Malgorzata; Terczynska, Iwona; Goszczanska-Ciuchta, Alicja; Rudzka-Dybala, Mariola; Jamroz, Ewa; Pyrkosz, Antoni; Jakubiuk-Tomaszuk, Anna; Iwanowski, Piotr; Gieruszczak-Bialek, Dorota; Piotrowicz, Malgorzata; Sasiadek, Maria; Kochanowska, Iwona; Gurda, Barbara; Steinborn, Barbara; Dawidziuk, Mateusz; Castaneda, Jennifer; Wlasienko, Pawel; Bezniakow, Natalia; Jhangiani, Shalini N; Hoffman-Zacharska, Dorota; Bal, Jerzy; Szczepanik, Elzbieta; Boerwinkle, Eric; Gibbs, Richard A; Lupski, James R.
Afiliação
  • Wiszniewski W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. wiszniew@ohsu.edu.
  • Gawlinski P; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland. wiszniew@ohsu.edu.
  • Gambin T; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA. wiszniew@ohsu.edu.
  • Bekiesinska-Figatowska M; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Obersztyn E; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Antczak-Marach D; Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland.
  • Akdemir ZHC; Department of Diagnostic Imaging, Institute of Mother and Child, Warsaw, Poland.
  • Harel T; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Karaca E; Clinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland.
  • Jurek M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Sobecka K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Nowakowska B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Kruk M; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Terczynska I; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Goszczanska-Ciuchta A; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Rudzka-Dybala M; Clinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland.
  • Jamroz E; Clinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland.
  • Pyrkosz A; Clinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland.
  • Jakubiuk-Tomaszuk A; Clinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland.
  • Iwanowski P; School of Medicine in Katowice, Department of Pediatrics and Developmental Age Neurology, Medical University of Silesia, Katowice, Poland.
  • Gieruszczak-Bialek D; Department of Medical Genetics, University of Rzeszow, Rzeszow, Poland.
  • Piotrowicz M; Department of Pediatric Neurology and Rehabilitation, Medical University of Bialystok, Bialystok, Poland.
  • Sasiadek M; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
  • Kochanowska I; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
  • Gurda B; Department of Pediatrics, Medical University of Warsaw, Warsaw, Poland.
  • Steinborn B; Department of Genetics, Polish Mother's Memorial Hospital - Research Institute, Lodz, Poland.
  • Dawidziuk M; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.
  • Castaneda J; Individual Medical Practice in Pediatric Neurology, Szczecin, Poland.
  • Wlasienko P; Department of Developmental Neurology, Poznan University of Medical Sciences, Poznan, Poland.
  • Bezniakow N; Department of Developmental Neurology, Poznan University of Medical Sciences, Poznan, Poland.
  • Jhangiani SN; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Hoffman-Zacharska D; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Bal J; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Szczepanik E; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Gibbs RA; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Lupski JR; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Eur J Hum Genet ; 26(8): 1121-1131, 2018 08.
Article em En | MEDLINE | ID: mdl-29706646
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polimorfismo de Nucleotídeo Único / Malformações do Desenvolvimento Cortical / Variações do Número de Cópias de DNA / Exoma Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polimorfismo de Nucleotídeo Único / Malformações do Desenvolvimento Cortical / Variações do Número de Cópias de DNA / Exoma Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos