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Vincent Morinière

Showing results (1-10 of 38) with videos related to

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Journal De La Societe De Biologie|February 4, 2010
[Mutations in renin-angiotensin system genes and kidney developmental anomalies]Marie-Claire Gubler, Olivier Gribouval, Vincent Morinière, et al.
European Journal of Human Genetics : EJHG|March 5, 2009
Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosisAnne-Sophie Lebre, Vincent Morinière, Olivier Dunand, et al.
Clinical Genetics|September 11, 2022
Bi-allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiologySara Gómez-Conde, Olivier Dunand, Aurélie Hummel, et al.
Pediatric Nephrology (Berlin, Germany)|March 22, 2020
Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney diseaseMarc Fila, Vincent Morinière, Philippe Eckart, et al.
Kidney International|July 16, 2004
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrenceStefanie Weber, Olivier Gribouval, Ernie L Esquivel, et al.
Clinical Journal of the American Society of Nephrology : CJASN|January 8, 2008
Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotypingAude Servais, Vincent Morinière, Jean-Pierre Grünfeld, et al.
Clinical Chemistry and Laboratory Medicine|December 22, 2016
QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletionsEszter Jávorszky, Vincent Morinière, Andrea Kerti, et al.
Human Molecular Genetics|October 29, 2013
Absence of cell surface expression of human ACE leads to perinatal deathAnnie Michaud, K Ravi Acharya, Geoffrey Masuyer, et al.
Pediatric Nephrology (Berlin, Germany)|February 11, 2020
The "salt and pepper" pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseasesPauline Iorio, Laurence Heidet, Caroline Rutten, et al.
Clinical Journal of the American Society of Nephrology : CJASN|December 4, 2025
Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney DiseaseFriederike Petzold, Cécile Jeanpierre, Xiaoyi Chen, et al.
Pageof 4

Showing results (1-10 of 38) with videos related to

Sort By:
Pageof 4
Journal De La Societe De Biologie|February 4, 2010
[Mutations in renin-angiotensin system genes and kidney developmental anomalies]Marie-Claire Gubler, Olivier Gribouval, Vincent Morinière, et al.
European Journal of Human Genetics : EJHG|March 5, 2009
Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosisAnne-Sophie Lebre, Vincent Morinière, Olivier Dunand, et al.
Clinical Genetics|September 11, 2022
Bi-allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiologySara Gómez-Conde, Olivier Dunand, Aurélie Hummel, et al.
Pediatric Nephrology (Berlin, Germany)|March 22, 2020
Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney diseaseMarc Fila, Vincent Morinière, Philippe Eckart, et al.
Kidney International|July 16, 2004
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrenceStefanie Weber, Olivier Gribouval, Ernie L Esquivel, et al.
Clinical Journal of the American Society of Nephrology : CJASN|January 8, 2008
Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotypingAude Servais, Vincent Morinière, Jean-Pierre Grünfeld, et al.
Clinical Chemistry and Laboratory Medicine|December 22, 2016
QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletionsEszter Jávorszky, Vincent Morinière, Andrea Kerti, et al.
Human Molecular Genetics|October 29, 2013
Absence of cell surface expression of human ACE leads to perinatal deathAnnie Michaud, K Ravi Acharya, Geoffrey Masuyer, et al.
Pediatric Nephrology (Berlin, Germany)|February 11, 2020
The "salt and pepper" pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseasesPauline Iorio, Laurence Heidet, Caroline Rutten, et al.
Clinical Journal of the American Society of Nephrology : CJASN|December 4, 2025
Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney DiseaseFriederike Petzold, Cécile Jeanpierre, Xiaoyi Chen, et al.
Pageof 4