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Revue Medicale Suisse|February 27, 2026
[When kidney disease is genetic: clues for the primary care physician]Fadi Haidar, David Jaques, Philippe Khau Van Kien, et al.
Revue Medicale Suisse|July 2, 2026
[Cardiogenetics in clinical practice : challenges, indications, and perspectives]Henri Margot, Michel Guipponi, Thomas Rio Frio, et al.
Revue Medicale Suisse|July 2, 2026
[High-throughput exome sequencing in prenatal diagnosis : indications, benefits, and limitations]Rosalinda Giannini, Camille Kumps, Viviane Cina, et al.
European Journal of Human Genetics : EJHG|May 21, 2009
Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndromeAurélie Plancke, Muriel Holder-Espinasse, Valérie Rigau, et al.
American Journal of Medical Genetics. Part A|May 27, 2010
Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophyBertrand Isidor, Sabine Baron, Philippe Khau van Kien, et al.
Genetics Research International|January 4, 2014
Lack of TEK Gene Mutation in Patients with Cutaneomucosal Venous Malformations from the North-Western Region of AlgeriaNabila Brahami, Mourad Aribi, Badr-Eddine Sari, et al.
Circulation|July 7, 2005
Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosus to 16p12.2-p13.13Philippe Khau Van Kien, Flavie Mathieu, Limin Zhu, et al.
British Journal of Haematology|July 7, 2007
Characterisation of a large complex intragenic re-arrangement in the FVII gene (F7) avoiding misdiagnosis in inherited factor VII deficiencyMuriel Giansily-Blaizot, Delphine Thorel, Philippe Khau Van Kien, et al.
Investigative Radiology|November 26, 2002
Automatic determination of aortic compliance with cine-magnetic resonance imaging: an application of fuzzy logic theoryAlain Lalande, Philippe Khau van Kien, Nicolas Salvé, et al.
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