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Exome sequencing identifies novel genes and variants in patients with Hirschsprung disease.
Kalim, Alvin Santoso; Iskandar, Kristy; Puspitarani, Dyah Ayu; Diposarosa, Rizki; Makhmudi, Akhmad; Astuti, Galuh Dyah Nur.
Afiliação
  • Gunadi; Pediatric Surgery Division, Department of Surgery/Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia. Electronic address: drgunadi@ugm.ac.id.
  • Kalim AS; Pediatric Surgery Division, Department of Surgery/Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia.
  • Iskandar K; Department of Child Health/Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/UGM Academic Hospital, Yogyakarta, Indonesia.
  • Marcellus; Pediatric Surgery Division, Department of Surgery/Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia.
  • Puspitarani DA; Pediatric Surgery Division, Department of Surgery/Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia.
  • Diposarosa R; Pediatric Surgery Division, Department of Surgery, Faculty of Medicine, Universitas Padjadjaran/Dr. Hasan Sadikin Hospital, Bandung, Indonesia.
  • Makhmudi A; Pediatric Surgery Division, Department of Surgery/Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia.
  • Astuti GDN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands/Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University Semarang, Indonesia.
J Pediatr Surg ; 58(4): 723-728, 2023 Apr.
Article em En | MEDLINE | ID: mdl-36586783
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Hirschsprung Limite: Female / Humans / Male País como assunto: Asia Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Hirschsprung Limite: Female / Humans / Male País como assunto: Asia Idioma: En Ano de publicação: 2023 Tipo de documento: Article