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A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
Tham, Emma; Eklund, Erik A; Hammarsjö, Anna; Bengtson, Per; Geiberger, Stefan; Lagerstedt-Robinson, Kristina; Malmgren, Helena; Nilsson, Daniel; Grigelionis, Gintautas; Conner, Peter; Lindgren, Peter; Lindstrand, Anna; Wedell, Anna; Albåge, Margareta; Zielinska, Katarzyna; Nordgren, Ann; Papadogiannakis, Nikos; Nishimura, Gen; Grigelioniene, Giedre.
Afiliación
  • Tham E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Eklund EA; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Hammarsjö A; Experimental Pediatrics, Clinical Sciences, Lund University, Lund, Sweden.
  • Bengtson P; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Geiberger S; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Lagerstedt-Robinson K; Department of Clinical Chemistry, part of University Health Care in Region Skåne, Lund, Sweden.
  • Malmgren H; Department of Pediatric Radiology, Karolinska University Hospital, Stockholm, Sweden.
  • Nilsson D; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Grigelionis G; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Conner P; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Lindgren P; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Lindstrand A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Wedell A; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Albåge M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Zielinska K; Department of Obstetrics and Gynecology, Karolinska University Hospital, Stockholm, Sweden.
  • Nordgren A; Department of Woman and Child Health, Karolinska Institutet, Stockholm, Sweden.
  • Papadogiannakis N; Department of Obstetrics and Gynecology, Karolinska University Hospital, Stockholm, Sweden.
  • Nishimura G; Department of Woman and Child Health, Karolinska Institutet, Stockholm, Sweden.
  • Grigelioniene G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Eur J Hum Genet ; 24(2): 198-207, 2016 Feb.
Article en En | MEDLINE | ID: mdl-25966638
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Anomalías Múltiples / Enfermedades del Desarrollo Óseo / Enfermedades del Sistema Nervioso Central / Exoma / Manosiltransferasas / Proteínas de la Membrana / Degeneración Nerviosa Límite: Child / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Suecia Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Anomalías Múltiples / Enfermedades del Desarrollo Óseo / Enfermedades del Sistema Nervioso Central / Exoma / Manosiltransferasas / Proteínas de la Membrana / Degeneración Nerviosa Límite: Child / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Suecia Pais de publicación: Reino Unido