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Sandrine Maestri

Showing results (1-10 of 5) with videos related to

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American Journal of Human Genetics|September 12, 2024
Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanismEmmanuelle Masson, Sandrine Maestri, Valérie Bordeau, et al.
HGG Advances|July 23, 2024
The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotypeKevin Uguen, Marlène Le Tertre, Dimitri Tchernitchko, et al.
Human Mutation|April 18, 2012
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patientsMarie-Pierre Audrézet, Emilie Cornec-Le Gall, Jian-Min Chen, et al.
Journal of the American Society of Nephrology : JASN|July 4, 2015
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney DiseaseMarie-Pierre Audrézet, Christine Corbiere, Said Lebbah, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|March 31, 2017
PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and PrognosisEmilie Cornec-Le Gall, Marie-Pierre Audrézet, Eric Renaudineau, et al.
Pageof 1

Showing results (1-10 of 5) with videos related to

Sort By:
Pageof 1
American Journal of Human Genetics|September 12, 2024
Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanismEmmanuelle Masson, Sandrine Maestri, Valérie Bordeau, et al.
HGG Advances|July 23, 2024
The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotypeKevin Uguen, Marlène Le Tertre, Dimitri Tchernitchko, et al.
Human Mutation|April 18, 2012
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patientsMarie-Pierre Audrézet, Emilie Cornec-Le Gall, Jian-Min Chen, et al.
Journal of the American Society of Nephrology : JASN|July 4, 2015
Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney DiseaseMarie-Pierre Audrézet, Christine Corbiere, Said Lebbah, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|March 31, 2017
PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and PrognosisEmilie Cornec-Le Gall, Marie-Pierre Audrézet, Eric Renaudineau, et al.
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