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Emma Ashton

Showing results (21-30 of 35) with videos related to

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Kidney International Reports|March 20, 2023
Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic PatientsElizabeth R Wan, Daniela Iancu, Emma Ashton, et al.
Frontiers in Cellular Neuroscience|December 7, 2020
A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype CorrelationThomas Parzefall, Alexandra Frohne, Martin Koenighofer, et al.
Pediatric Nephrology (Berlin, Germany)|June 7, 2014
Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty yearsJameela A Kari, Giovanni Montini, Detlef Bockenhauer, et al.
Pediatric Nephrology (Berlin, Germany)|January 10, 2022
Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene StudyRajiv Sinha, Subal Pradhan, Sushmita Banerjee, et al.
The Journal of Clinical Endocrinology and Metabolism|November 27, 2019
Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With HypopituitarismMona Tahoun, Jennifer C Chandler, Emma Ashton, et al.
Kidney International|November 2, 2019
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adultsMarguerite Hureaux, Emma Ashton, Karin Dahan, et al.
BMC Genomics|December 2, 2008
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathiesMatteo Bovolenta, Marcella Neri, Sergio Fini, et al.
Plos One|July 28, 2017
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitisEbun Omoyinmi, Ariane Standing, Annette Keylock, et al.
Journal of the American Society of Nephrology : JASN|December 16, 2017
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1Sven Enerbäck, Daniel Nilsson, Noel Edwards, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|January 21, 2025
A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1Myrte Daenen, Marguerite Hureaux, Emma Ashton, et al.
Pageof 4

Showing results (21-30 of 35) with videos related to

Sort By:
Pageof 4
Kidney International Reports|March 20, 2023
Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic PatientsElizabeth R Wan, Daniela Iancu, Emma Ashton, et al.
Frontiers in Cellular Neuroscience|December 7, 2020
A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype CorrelationThomas Parzefall, Alexandra Frohne, Martin Koenighofer, et al.
Pediatric Nephrology (Berlin, Germany)|June 7, 2014
Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty yearsJameela A Kari, Giovanni Montini, Detlef Bockenhauer, et al.
Pediatric Nephrology (Berlin, Germany)|January 10, 2022
Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene StudyRajiv Sinha, Subal Pradhan, Sushmita Banerjee, et al.
The Journal of Clinical Endocrinology and Metabolism|November 27, 2019
Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With HypopituitarismMona Tahoun, Jennifer C Chandler, Emma Ashton, et al.
Kidney International|November 2, 2019
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adultsMarguerite Hureaux, Emma Ashton, Karin Dahan, et al.
BMC Genomics|December 2, 2008
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathiesMatteo Bovolenta, Marcella Neri, Sergio Fini, et al.
Plos One|July 28, 2017
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitisEbun Omoyinmi, Ariane Standing, Annette Keylock, et al.
Journal of the American Society of Nephrology : JASN|December 16, 2017
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1Sven Enerbäck, Daniel Nilsson, Noel Edwards, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|January 21, 2025
A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1Myrte Daenen, Marguerite Hureaux, Emma Ashton, et al.
Pageof 4