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Sarah A Howles

Showing results (21-30 of 26) with videos related to

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JCI Insight|February 15, 2017
G<b>α</b><sub>11</sub> mutation in mice causes hypocalcemia rectifiable by calcilytic therapyCaroline M Gorvin, Fadil M Hannan, Sarah A Howles, et al.
Journal of the American Society of Nephrology : JASN|October 3, 2023
Central Adiposity Increases Risk of Kidney Stone Disease through Effects on Serum Calcium ConcentrationsCatherine E Lovegrove, Jelena Bešević, Akira Wiberg, et al.
The Journal of Clinical Endocrinology and Metabolism|April 9, 2014
Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3)Angela Rogers, M Andrew Nesbit, Fadil M Hannan, et al.
Human Molecular Genetics|June 18, 2015
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effectsFadil M Hannan, Sarah A Howles, Angela Rogers, et al.
Medrxiv : the Preprint Server for Health Sciences|January 10, 2024
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project dataValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Nature|February 26, 2025
Rare disease gene association discovery in the 100,000 Genomes ProjectValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Pageof 3

Showing results (21-30 of 26) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 26 results.
JCI Insight|February 15, 2017
G<b>α</b><sub>11</sub> mutation in mice causes hypocalcemia rectifiable by calcilytic therapyCaroline M Gorvin, Fadil M Hannan, Sarah A Howles, et al.
Journal of the American Society of Nephrology : JASN|October 3, 2023
Central Adiposity Increases Risk of Kidney Stone Disease through Effects on Serum Calcium ConcentrationsCatherine E Lovegrove, Jelena Bešević, Akira Wiberg, et al.
The Journal of Clinical Endocrinology and Metabolism|April 9, 2014
Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3)Angela Rogers, M Andrew Nesbit, Fadil M Hannan, et al.
Human Molecular Genetics|June 18, 2015
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effectsFadil M Hannan, Sarah A Howles, Angela Rogers, et al.
Medrxiv : the Preprint Server for Health Sciences|January 10, 2024
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project dataValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Nature|February 26, 2025
Rare disease gene association discovery in the 100,000 Genomes ProjectValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Pageof 3