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Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.
Girisha, Katta Mohan; Bidchol, Abdul Mueed; Graul-Neumann, Luitgard; Gupta, Ashish; Hehr, Ute; Lessel, Davor; Nader, Sean; Shah, Hitesh; Wickert, Julia; Kutsche, Kerstin.
Afiliación
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
  • Bidchol AM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
  • Graul-Neumann L; Ambulantes Gesundheitszentrum der Charité, Campus Virchow, Humangenetik, Universitätsmedizin Berlin, Berlin, Germany.
  • Gupta A; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
  • Hehr U; Center for and Department of Human Genetics, University of Regensburg, Regensburg, Germany.
  • Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.
  • Nader S; Kinderorthopädie, Schön Klinik Vogtareuth, Prien am Chiemsee, Germany.
  • Shah H; Pediatric Orthopedic Services, Department of Orthopedics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
  • Wickert J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.
  • Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany. kkutsche@uke.de.
BMC Med Genet ; 17: 27, 2016 Apr 06.
Article en En | MEDLINE | ID: mdl-27048506
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Heterogeneidad Genética / Genotipo Tipo de estudio: Prognostic_studies Límite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: India Pais de publicación: Reino Unido
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Heterogeneidad Genética / Genotipo Tipo de estudio: Prognostic_studies Límite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: India Pais de publicación: Reino Unido