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Cecilie Bredrup

Showing results (41-50 of 47) with videos related to

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American Journal of Ophthalmology|August 2, 2008
Ophthalmological aspects of Pierson syndromeCecilie Bredrup, Verena Matejas, Margaret Barrow, et al.
Brain : a Journal of Neurology|January 19, 2024
Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregationMikel Muñoz-Oreja, Abigail Sandoval, Ove Bruland, et al.
American Journal of Human Genetics|October 25, 2011
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19Cecilie Bredrup, Sophie Saunier, Machteld M Oud, et al.
American Journal of Human Genetics|February 4, 2017
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent NephronophthisisMaxence S Macia, Jan Halbritter, Marion Delous, et al.
American Journal of Human Genetics|January 17, 2017
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent NephronophthisisMaxence S Macia, Jan Halbritter, Marion Delous, et al.
Journal of Medical Genetics|July 24, 2025
'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitorsYordi-Michaël Bouhatous, Cecilie Bredrup, Agnes Maurer, et al.
Journal of Medical Genetics|March 12, 2024
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statementDidier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, et al.
Pageof 5

Showing results (41-50 of 47) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 47 results.
American Journal of Ophthalmology|August 2, 2008
Ophthalmological aspects of Pierson syndromeCecilie Bredrup, Verena Matejas, Margaret Barrow, et al.
Brain : a Journal of Neurology|January 19, 2024
Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregationMikel Muñoz-Oreja, Abigail Sandoval, Ove Bruland, et al.
American Journal of Human Genetics|October 25, 2011
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19Cecilie Bredrup, Sophie Saunier, Machteld M Oud, et al.
American Journal of Human Genetics|February 4, 2017
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent NephronophthisisMaxence S Macia, Jan Halbritter, Marion Delous, et al.
American Journal of Human Genetics|January 17, 2017
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent NephronophthisisMaxence S Macia, Jan Halbritter, Marion Delous, et al.
Journal of Medical Genetics|July 24, 2025
'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitorsYordi-Michaël Bouhatous, Cecilie Bredrup, Agnes Maurer, et al.
Journal of Medical Genetics|March 12, 2024
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statementDidier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, et al.
Pageof 5