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Gill Rumsby

Showing results (51-60 of 60) with videos related to

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American Journal of Nephrology|June 18, 2005
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in IsraelYaacov Frishberg, Choni Rinat, Adel Shalata, et al.
Human Mutation|May 30, 2009
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT geneEmma L Williams, Cecile Acquaviva, Antonio Amoroso, et al.
Journal of the Endocrine Society|November 21, 2019
Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSDFederica Buonocore, Oliver Clifford-Mobley, Tom F J King, et al.
Clinical Journal of the American Society of Nephrology : CJASN|March 14, 2020
End Points for Clinical Trials in Primary HyperoxaluriaDawn S Milliner, Tracy L McGregor, Aliza Thompson, et al.
Kidney International|November 6, 2019
Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-upSander F Garrelfs, Gill Rumsby, Hessel Peters-Sengers, et al.
The Journal of Clinical Endocrinology and Metabolism|January 22, 2010
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiencySilvia Parajes, Lourdes Loidi, Nicole Reisch, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 2, 2012
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatmentPierre Cochat, Sally-Anne Hulton, Cécile Acquaviva, et al.
Nature Reviews. Nephrology|January 5, 2023
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEuropeJaap W Groothoff, Ella Metry, Lisa Deesker, et al.
World Journal of Urology|April 22, 2025
SMART Stone Multidisciplinary Team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathwayBhaskar Somani, Esteban Emiliani, Thomas Knoll, et al.
World Journal of Urology|November 4, 2025
Correction: SMART stone multidisciplinary team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathwayBhaskar Somani, Esteban Emiliani, Thomas Knoll, et al.
Pageof 6

Showing results (51-60 of 60) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 60 results.
American Journal of Nephrology|June 18, 2005
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in IsraelYaacov Frishberg, Choni Rinat, Adel Shalata, et al.
Human Mutation|May 30, 2009
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT geneEmma L Williams, Cecile Acquaviva, Antonio Amoroso, et al.
Journal of the Endocrine Society|November 21, 2019
Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSDFederica Buonocore, Oliver Clifford-Mobley, Tom F J King, et al.
Clinical Journal of the American Society of Nephrology : CJASN|March 14, 2020
End Points for Clinical Trials in Primary HyperoxaluriaDawn S Milliner, Tracy L McGregor, Aliza Thompson, et al.
Kidney International|November 6, 2019
Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-upSander F Garrelfs, Gill Rumsby, Hessel Peters-Sengers, et al.
The Journal of Clinical Endocrinology and Metabolism|January 22, 2010
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiencySilvia Parajes, Lourdes Loidi, Nicole Reisch, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 2, 2012
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatmentPierre Cochat, Sally-Anne Hulton, Cécile Acquaviva, et al.
Nature Reviews. Nephrology|January 5, 2023
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEuropeJaap W Groothoff, Ella Metry, Lisa Deesker, et al.
World Journal of Urology|April 22, 2025
SMART Stone Multidisciplinary Team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathwayBhaskar Somani, Esteban Emiliani, Thomas Knoll, et al.
World Journal of Urology|November 4, 2025
Correction: SMART stone multidisciplinary team (MDT) and patient care: recommendations for the adult high-risk kidney stone patient pathwayBhaskar Somani, Esteban Emiliani, Thomas Knoll, et al.
Pageof 6