Search research articles
Contact Us
Filters
Showing results (1-10 of 38) with videos related to
Page
of 4
Sort By:
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 cystinosis
Anne-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 etiology
Sara 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 disease
Marc 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 recurrence
Stefanie 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 genotyping
Aude 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 deletions
Eszter Jávorszky, Vincent Morinière, Andrea Kerti, et al.
Human Molecular Genetics
|
October 29, 2013
Absence of cell surface expression of human ACE leads to perinatal death
Annie 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 diseases
Pauline 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 Disease
Friederike Petzold, Cécile Jeanpierre, Xiaoyi Chen, et al.
Page
of 4
Search research articles
Search
Showing results (1-10 of 38) with videos related to
Sort By:
Page
of 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 cystinosis
Anne-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 etiology
Sara 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 disease
Marc 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 recurrence
Stefanie 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 genotyping
Aude 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 deletions
Eszter Jávorszky, Vincent Morinière, Andrea Kerti, et al.
Human Molecular Genetics
|
October 29, 2013
Absence of cell surface expression of human ACE leads to perinatal death
Annie 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 diseases
Pauline 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 Disease
Friederike Petzold, Cécile Jeanpierre, Xiaoyi Chen, et al.
Page
of 4