Publications by authors named "Nihr BioResource"

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Planning to conceive within a year is associated with better pregnancy-specific disease-related patient knowledge and better medication adherence in women of childbearing age with inflammatory bowel disease.
Christian P Selinger, Robyn Laube, Helen Steed, Matthew Brookes, Nihr BioResource

Therap Adv Gastroenterol· August 2023

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Factors Associated with Family Planning Status and Voluntary Childlessness in Women of Childbearing Age with Inflammatory Bowel Diseases.
Christian P Selinger, Helen Steed, Satvinder Purewal, Rebecca Homer, Nihr BioResource

J Clin Med· June 2023

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Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.
Agnieszka Bierzynska, Katherine Bull, Sara Miellet, Philip Dean, Chris Neal, Nihr BioResource

Pediatr Nephrol· November 2022

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Identification of a homozygous recessive variant in resulting in a congenital aspirin-like defect in platelet function.
Melissa V Chan, Melissa A Hayman, Suthesh Sivapalaratnam, Marilena Crescente, Harriet E Allan, Nihr BioResource

Haematologica· May 2021

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Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Loredana Bury, Karyn Megy, Jonathan C Stephens, Luigi Grassi, Daniel Greene, Nihr BioResource

Hum Mutat· January 2020

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Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.
Tadbir K Bariana, Veerle Labarque, Jessica Heremans, Chantal Thys, Mara De Reys, Nihr BioResource

Haematologica· May 2019

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A novel missense variant in causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.
Manisha Padmakumar, Jaak Jaeken, Vincent Ramaekers, Lieven Lagae, Daniel Greene, Nihr BioResource

JIMD Rep· May 2019

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Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.
Marjorie Poggi, Matthias Canault, Marie Favier, Ernest Turro, Paul Saultier, Nihr BioResource

Haematologica· February 2017

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