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Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.
Jakubiak, Aleksandra; Szczaluba, Krzysztof; Badura-Stronka, Magdalena; Kutkowska-Kazmierczak, Anna; Jakubiuk-Tomaszuk, Anna; Chilarska, Tatiana; Pilch, Jacek; Braun-Walicka, Natalia; Castaneda, Jennifer; Wolynska, Katarzyna; Wisniewska, Marzena; Kugaudo, Monika; Bielecka, Monika; Pesz, Karolina; Wierzba, Jolanta; Latos-Bielenska, Anna; Obersztyn, Ewa; Krajewska-Walasek, Malgorzata; Smigiel, Robert.
Afiliação
  • Jakubiak A; Department of Paediatrics, Division of Paediatric Propaedeutics and Rare Disorders, Medical University, Wroclaw, Poland. aleksandra.jakubiak@umed.wroc.pl.
  • Szczaluba K; Department of Medical Genetics, Medical University, Warsaw, Poland.
  • Badura-Stronka M; Department of Medical Genetics, Medical University, Poznan, Poland.
  • Kutkowska-Kazmierczak A; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Jakubiuk-Tomaszuk A; Department of Neurology and Children Rehabilitation, Medical University, Bialystok, Poland.
  • Chilarska T; Medical Genetics Unit, Mastermed Medical Center, Bialystok, Poland.
  • Pilch J; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
  • Braun-Walicka N; Department of Paediatric Neurology, Medical University of Silesia, Katowice, Poland.
  • Castaneda J; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Wolynska K; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Wisniewska M; Department of Medical Genetics, Medical University, Poznan, Poland.
  • Kugaudo M; Department of Medical Genetics, Medical University, Poznan, Poland.
  • Bielecka M; Department of Children and Adolescent Psychiatry, University Clinical Centre, Paediatric Teaching Clinical Hospital, Warsaw, Poland.
  • Pesz K; Department of Pharmaceutical Biotechnology, Medical University, Wroclaw, Poland.
  • Wierzba J; Department of Genetics, Medical University, Wroclaw, Poland.
  • Latos-Bielenska A; Department of Internal and Paediatric Nursing, Institute of Nursing and Midwifery, Medical University Gdansk, Gdansk, Poland.
  • Obersztyn E; Department of Medical Genetics, Medical University, Poznan, Poland.
  • Krajewska-Walasek M; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Smigiel R; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
J Appl Genet ; 62(3): 477-485, 2021 Sep.
Article em En | MEDLINE | ID: mdl-33982229

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fácies / Doença de Hirschsprung / Deficiência Intelectual / Microcefalia Tipo de estudo: Diagnostic_studies Limite: Humans País/Região como assunto: Europa Idioma: En Revista: J Appl Genet Assunto da revista: GENETICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Polônia País de publicação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fácies / Doença de Hirschsprung / Deficiência Intelectual / Microcefalia Tipo de estudo: Diagnostic_studies Limite: Humans País/Região como assunto: Europa Idioma: En Revista: J Appl Genet Assunto da revista: GENETICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Polônia País de publicação: Reino Unido