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Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
Paff, Tamara; Loges, Niki T; Aprea, Isabella; Wu, Kaman; Bakey, Zeineb; Haarman, Eric G; Daniels, Johannes M A; Sistermans, Erik A; Bogunovic, Natalija; Dougherty, Gerard W; Höben, Inga M; Große-Onnebrink, Jörg; Matter, Anja; Olbrich, Heike; Werner, Claudius; Pals, Gerard; Schmidts, Miriam; Omran, Heymut; Micha, Dimitra.
Afiliación
  • Paff T; Department of Pulmonary Diseases, VU University Medical Center, 1007 MB Amsterdam, the Netherlands; Department of Paediatric Pulmonology, VU University Medical Center, 1007 MB Amsterdam, the Netherlands; Department of Clinical Genetics, VU University Medical Center, 1007 MB Amsterdam, the Netherland
  • Loges NT; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Aprea I; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Wu K; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, the Netherlands.
  • Bakey Z; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, the Netherlands.
  • Haarman EG; Department of Paediatric Pulmonology, VU University Medical Center, 1007 MB Amsterdam, the Netherlands.
  • Daniels JMA; Department of Pulmonary Diseases, VU University Medical Center, 1007 MB Amsterdam, the Netherlands.
  • Sistermans EA; Department of Clinical Genetics, VU University Medical Center, 1007 MB Amsterdam, the Netherlands.
  • Bogunovic N; Department of Surgery and Physiology, Amsterdam Cardiovascular Sciences, VU University Medical Center, 1007 MB Amsterdam, the Netherlands.
  • Dougherty GW; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Höben IM; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Große-Onnebrink J; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Matter A; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Olbrich H; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Werner C; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Pals G; Department of Clinical Genetics, VU University Medical Center, 1007 MB Amsterdam, the Netherlands.
  • Schmidts M; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, the Netherlands; Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, 79110 Freiburg, Germany.
  • Omran H; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Micha D; Department of Clinical Genetics, VU University Medical Center, 1007 MB Amsterdam, the Netherlands. Electronic address: d.micha@vumc.nl.
Am J Hum Genet ; 100(1): 160-168, 2017 Jan 05.
Article en En | MEDLINE | ID: mdl-28041644
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cola del Espermatozoide / Cilios / Trastornos de la Motilidad Ciliar / Dineínas / Genes Ligados a X / Mutación Límite: Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2017 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cola del Espermatozoide / Cilios / Trastornos de la Motilidad Ciliar / Dineínas / Genes Ligados a X / Mutación Límite: Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2017 Tipo del documento: Article Pais de publicación: Estados Unidos