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Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.
Walczak-Sztulpa, Joanna; Wawrocka, Anna; Doornbos, Cenna; van Beek, Ronald; Sowinska-Seidler, Anna; Jamsheer, Aleksander; Bukowska-Olech, Ewelina; Latos-Bielenska, Anna; Grenda, Ryszard; Bongers, Ernie M H F; Schmidts, Miriam; Obersztyn, Ewa; Krawczynski, Maciej R; Oud, Machteld M.
Affiliation
  • Walczak-Sztulpa J; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Wawrocka A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Doornbos C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
  • van Beek R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
  • Sowinska-Seidler A; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.
  • Jamsheer A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Bukowska-Olech E; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Latos-Bielenska A; Centers for Medical Genetics, Poznan, Poland.
  • Grenda R; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Bongers EMHF; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Schmidts M; Department of Nephrology, Kidney Transplantation and Hypertension, The Children's Memorial Health Institute, Warsaw, Poland.
  • Obersztyn E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
  • Krawczynski MR; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Freiburg, Germany.
  • Oud MM; CIBSS-Centre for Integrative Biological Signalling Studies, Freiburg University, Freiburg, Germany.
Front Genet ; 13: 931822, 2022.
Article in En | MEDLINE | ID: mdl-35873489
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies Language: En Journal: Front Genet Year: 2022 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies Language: En Journal: Front Genet Year: 2022 Document type: Article Affiliation country: Country of publication: