Resultats de la cerca - Sarah Howles

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  1. 1
    Causal inference in health and disease: a review of the principles and applications of Mendelian randomization

    Causal inference in health and disease: a review of the principles and applications of Mendelian randomization per Catherine Lovegrove, Sarah Howles, Dominic Furniss, Michael V. Holmes

    Publicat 2024
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  2. 2
    Use of Temporally Validated Machine Learning Models To Predict Outcomes of Percutaneous Nephrolithotomy Using Data from the British Association of Urological Surgeons Percutaneous Nephrolithotomy Audit

    Use of Temporally Validated Machine Learning Models To Predict Outcomes of Percutaneous Nephrolithotomy Using Data from the British Association of Urological Surgeons Percutaneous... per Robert Geraghty, Anshul Thakur, Sarah Howles, William Finch, Sarah Fowler, Alistair Rogers, Seshadri Sriprasad, Daron Smith, Andrew Dickinson, Zara Gall, Bhaskar Somani

    Publicat 2024
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  3. 3
    Mutations Affecting G-Protein Subunit α<sub>11</sub>in Hypercalcemia and Hypocalcemia

    Mutations Affecting G-Protein Subunit α<sub>11</sub>in Hypercalcemia and Hypocalcemia per M. Andrew Nesbit, Fadil Hannan, Sarah Howles, Valerie Babinsky, Rosie Head, Treena Cranston, Nigel Rust, Maurine R. Hobbs, Hunter Heath, Rajesh V. Thakker

    Publicat 2013
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  4. 4
    Cinacalcet for Symptomatic Hypercalcemia Caused by <i>AP2S1</i> Mutations

    Cinacalcet for Symptomatic Hypercalcemia Caused by <i>AP2S1</i> Mutations per Sarah Howles, Fadil Hannan, Valerie Babinsky, Ralph Rogers, Caroline M. Gorvin, Nigel Rust, Tristan Richardson, Malachi J. McKenna, M. Andrew Nesbit, Rajesh V. Thakker

    Publicat 2016
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  5. 5
    Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)

    Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2) per Siân E. Piret, Caroline M. Gorvin, Alistair T. Pagnamenta, Sarah Howles, Treena Cranston, Nigel Rust, M. Andrew Nesbit, Ben Glaser, Jenny C. Taylor, Andreas Buchs, Fadil Hannan, Rajesh V. Thakker

    Publicat 2016
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  6. 6
    Genetic variants of calcium and vitamin D metabolism in kidney stone disease

    Genetic variants of calcium and vitamin D metabolism in kidney stone disease per Sarah Howles, Akira Wiberg, Michelle Goldsworthy, Asha L. Bayliss, Anna Gluck, Michael Ng, Emily Grout, Chizu Tanikawa, Yoichiro Kamatani, Chikashi Terao, Atsushi Takahashi, Michiaki Kubo, Koichi Matsuda, Rajesh V. Thakker, Benjamin W. Turney, Dominic Furniss

    Publicat 2019
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  7. 7
    Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

    Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3 per M. Andrew Nesbit, Fadil Hannan, Sarah Howles, Adam J. Reed, Treena Cranston, Clare Thakker, Lorna Gregory, Andrew J. Rimmer, Nigel Rust, Una Graham, Patrick J. Morrison, Steven Hunter, Michael P. Whyte, Gil McVean, David Buck, Rajesh V. Thakker

    Publicat 2012
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  8. 8
    Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy

    Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy per Caroline M. Gorvin, Fadil Hannan, Sarah Howles, Valerie Babinsky, Siân E. Piret, Angela Rogers, Andrew Freidin, Michelle Stewart, Anju Paudyal, Tertius Hough, M. Andrew Nesbit, Sara Wells, Tonia L. Vincent, S.D.M. Brown, Roger Cox, Rajesh V. Thakker

    Publicat 2017
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  9. 9
    Central Adiposity Increases Risk of Kidney Stone Disease through Effects on Serum Calcium Concentrations

    Central Adiposity Increases Risk of Kidney Stone Disease through Effects on Serum Calcium Concentrations per Catherine Lovegrove, Jelena Bešević, Akira Wiberg, Ben Lacey, Thomas J. Littlejohns, Naomi E. Allen, Michelle Goldsworthy, Jihye Kim, Fadil Hannan, Gary C. Curhan, Benjamin W. Turney, Mark I. McCarthy, Anubha Mahajan, Rajesh V. Thakker, Michael V. Holmes, Dominic Furniss, Sarah Howles

    Publicat 2023
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  10. 10
    Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant-negative effects

    Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant-negative... per Fadil Hannan, Sarah Howles, Angela Rogers, Treena Cranston, Caroline M. Gorvin, Valerie Babinsky, Adam J. Reed, Clare E. Thakker, Detlef Böckenhauer, Rosalind S. Brown, John Connell, Jacqueline Cook, Ken Darzy, Sarah Ehtisham, Una Graham, Tony Hulse, Steven Hunter, Louise Izatt, Dhavendra Kumar, Malachi J. McKenna, John McKnight, Patrick J. Morrison, M. Zulf Mughal, Domhnall O’Halloran, Simon H. S. Pearce, Mary Porteous, Mushtaqur Rahman, Tristan Richardson, Robert Robinson, Isabelle Scheers, Haroon Siddique, William G. van’t Hoff, Timothy C. Wang, Michael P. Whyte, M. Andrew Nesbit, Rajesh V. Thakker

    Publicat 2015
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  11. 11
    Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease

    Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease per Omid Sadeghi‐Alavijeh, Melanie Chan, Shabbir H. Moochhala, Sarah Howles, Daniel P. Gale, Detlef Böckenhauer, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Bingyang Shi, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, I. U. S. Leong, Javier F. Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, D. Perez-Gil, J. Pullinger, T. Rahim, Augusto Rendon, Tim Rogers, K. Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, Katarzyna Witkowska, S. M. Wood

    Publicat 2023
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  12. 12
    Rare disease gene association discovery in the 100,000 Genomes Project

    Rare disease gene association discovery in the 100,000 Genomes Project per Valentina Cipriani, Letizia Vestito, Emma Magavern, Julius O.B. Jacobsen, Gavin Arno, Elijah R. Behr, Katherine A. Benson, Marta Bértoli, Detlef Böckenhauer, Michael R. Bowl, Kate Burley, Li Chan, Patrick F. Chinnery, Peter J. Conlon, Marcos Abreu Costa, Alice E. Davidson, Sally J. Dawson, Elhussein A. Elhassan, Sarah E. Flanagan, Marta Futema, Daniel P. Gale, Sonia García-Ruiz, M. Cecilia Gonzalez Corcia, Helen Griffin, Sophie Hambleton, Amy R. Hicks, Henry Houlden, Richard S. Houlston, Sarah Howles, Robert Kleta, Iris Lekkerkerker, Siying Lin, Petra Lišková, Hannah M. Mitchison, Heba Morsy, Andrew Mumford, William G. Newman, Ruxandra Neatu, Edel A. O’Toole, Albert Ong, Alistair T. Pagnamenta, Shamima Rahman, Neil Rajan, Peter N. Robinson, Mina Ryten, Omid Sadeghi‐Alavijeh, John A. Sayer, Claire L. Shovlin, Jenny C. Taylor, Omri Teltsh, Ian Tomlinson, Arianna Tucci, Clare Turnbull, Albertien M. van Eerde, James S. Ware, Laura Watts, Andrew R. Webster, Sarah K. Westbury, Sean L. Zheng, Mark J. Caulfield, Damian Smedley

    Publicat 2025
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