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Gill Rumsby

Showing results (41-50 of 60) with videos related to

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Clinical Kidney Journal|August 28, 2025
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reportedGiorgia Mandrile, Gill Rumsby, Veronica Sciannameo, et al.
European Journal of Endocrinology|March 6, 2015
Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex developmentNiamh Phelan, Emma L Williams, Stefanie Cardamone, et al.
Pediatric Nephrology (Berlin, Germany)|June 13, 2022
Genetic assessment in primary hyperoxaluria: why it mattersGiorgia Mandrile, Bodo Beck, Cecile Acquaviva, et al.
European Journal of Endocrinology|March 16, 2011
Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinicMarta Berra, Emma L Williams, Barbara Muroni, et al.
Urolithiasis|May 31, 2020
Plasma oxalate: comparison of methodologiesFelicity Stokes, Cecile Acquaviva-Bourdain, Bernd Hoppe, et al.
Kidney International|July 3, 2014
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation typeGiorgia Mandrile, Christiaan S van Woerden, Paola Berchialla, et al.
Journal of Inherited Metabolic Disease|June 11, 2025
A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXTLuana Ruta, Andrea G Cogal, Gioena Pampalone, et al.
Hormone Research in Paediatrics|June 8, 2020
Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB MutationsDinesh Giri, Detlef Bockenhauer, Charu Deshpande, et al.
Endocrinology, Diabetes & Metabolism Case Reports|December 19, 2014
Adrenal cancer in neurofibromatosis type 1: case report and DNA analysisRavi Kumar Menon, Francesco Ferrau, Tom R Kurzawinski, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 7, 2012
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3Emma L Williams, Detlef Bockenhauer, William G van't Hoff, et al.
Pageof 6

Showing results (41-50 of 60) with videos related to

Sort By:
Pageof 6
Clinical Kidney Journal|August 28, 2025
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reportedGiorgia Mandrile, Gill Rumsby, Veronica Sciannameo, et al.
European Journal of Endocrinology|March 6, 2015
Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex developmentNiamh Phelan, Emma L Williams, Stefanie Cardamone, et al.
Pediatric Nephrology (Berlin, Germany)|June 13, 2022
Genetic assessment in primary hyperoxaluria: why it mattersGiorgia Mandrile, Bodo Beck, Cecile Acquaviva, et al.
European Journal of Endocrinology|March 16, 2011
Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinicMarta Berra, Emma L Williams, Barbara Muroni, et al.
Urolithiasis|May 31, 2020
Plasma oxalate: comparison of methodologiesFelicity Stokes, Cecile Acquaviva-Bourdain, Bernd Hoppe, et al.
Kidney International|July 3, 2014
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation typeGiorgia Mandrile, Christiaan S van Woerden, Paola Berchialla, et al.
Journal of Inherited Metabolic Disease|June 11, 2025
A Minor Haplotype Variant Determines the Pathogenicity of the p.Ile279Thr Substitution in the Primary Hyperoxaluria Type 1 Gene, AGXTLuana Ruta, Andrea G Cogal, Gioena Pampalone, et al.
Hormone Research in Paediatrics|June 8, 2020
Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB MutationsDinesh Giri, Detlef Bockenhauer, Charu Deshpande, et al.
Endocrinology, Diabetes & Metabolism Case Reports|December 19, 2014
Adrenal cancer in neurofibromatosis type 1: case report and DNA analysisRavi Kumar Menon, Francesco Ferrau, Tom R Kurzawinski, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 7, 2012
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3Emma L Williams, Detlef Bockenhauer, William G van't Hoff, et al.
Pageof 6