XLH Matters: an evolving programme to discuss new advances and share clinical experiences to improve patient outcomes by Lothar Seefried, Ferdinando Aliberti, Cathrine Alsaker Heier, Pedro Arango-Sancho, Martin Biosse Duplan, Sophia D. Sakka, Francesco Emma, Oliver Gardiner, Muhammad Kassim Javaid, Rui M. Ferreira-Santos, Adalbert Raimann, Kristen Rak, Judith S. Bubbear, Moira S. Cheung, Signe Sparre Beck-Nielsen, Gabriel T. Mindler, Agnès Linglart

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Development of a patient-reported outcomes tool to monitor changes in joint health and wellbeing for young people with haemophilia B by Bladen Melanie, McDonagh Janet, McLaughlin Paul, Gooding Richard, Holder Kerry-Ann, Thind Sharon, Klooster Brittany, Shields Alan, Turner-Bowker Diane M., Chatterton Kaitlin, Leso Allison, Volpi Connor, Sivasubramaniyam Sujan, Abulizi Jiawula, Khan Nisa

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What does good care look like to people living with congenital heart disease in the 21st century? Qualitative online, asynchronous discussion forums by Christina Pagel, Jo Wray, Sonya Crowe, Louise Coats, Fiona Kennedy, Adrian H Chester

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Evidence that a STAT3 Mutation Causing Hyper IgE Syndrome Leads to Repression of Transcriptional Activity by Sameer Bahal, Maha E. Houssen, Ania Manson, Lorena Lorenzo, Mark A. Russell, Noel G. Morgan, Fariba Tahami, Sofia Grigoriadou

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Enlarged Vestibular Aqueduct and Associated Inner Ear Malformations: Hearing Loss Prognostic Factors and Data Modeling from an International Cohort by Haroon S. Saeed, Martin Fergie, Kristianna Mey, Niels West, Per Caye-Thomasen, Robert Nash, Shakeel R. Saeed, Stavros M. Stivaros, Graeme Black, Iain A. Bruce

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Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln) by Sharmin Alhaque, Dimitri Budinger, Barbara Garavaglia, Giovanna Zorzi, Serena Barral, Manju A. Kurian

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An interpretable machine learning tool for in-home monitoring of agitation episodes in people living with dementia: a proof-of-concept studyResearch in context by Marirena Bafaloukou, Ann-Kathrin Schalkamp, Nan Fletcher-Lloyd, Alex Capstick, Chloe Walsh, Cynthia Sandor, Samaneh Kouchaki, Ramin Nilforooshan, Payam Barnaghi

“…P.B. is also funded by the Great Ormond Street Hospital and the Royal Academy of Engineering. …”
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Discovering patient groups in sequential electronic healthcare data using unsupervised representation learning by Jingteng Li, Kimberley R. Zakka, John Booth, Louise Rigny, Samiran Ray, Mario Cortina-Borja, Payam Barnaghi, Neil Sebire

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Measuring the Impact of the COVID-19 Pandemic on Diagnostic Delay in Rare Disease by Caitlin Hampson, William Evans, Lucy McKay, Lara Menzies

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Remodeling the light-adapted electroretinogram using a bayesian statistical approach by Marek Brabec, Fernando Marmolejo-Ramos, Lynne Loh, Irene O. Lee, Mikhail Kulyabin, Aleksei Zhdanov, Hugo Posada-Quintero, Dorothy A. Thompson, Paul A. Constable

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Rockwood Clinical Frailty Scale as a predictor of adverse outcomes among older adults undergoing aortic valve replacement: a protocol for a systematic review by Rose Galvin, Ahmed Gabr, Catherine Peters, Margaret O'Connor, Aoife Leahy, Elaine Shanahan, Tadhg Prendiville, Laura Quinlan, Anastasia Saleh, Ivan Casserly

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Advances in Cardiovascular Multimodality Imaging in Patients with Marfan Syndrome by Marco Alfonso Perrone, Sara Moscatelli, Giulia Guglielmi, Francesco Bianco, Deborah Cappelletti, Amedeo Pellizzon, Andrea Baggiano, Enrico Emilio Diviggiano, Maria Ricci, Pier Paolo Bassareo, Akshyaya Pradhan, Giulia Elena Mandoli, Andrea Cimini, Giuseppe Caminiti

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ESPGHAN and NASPGHAN 2024 protocol for paediatric functional constipation treatment guidelines (standard operating procedure) by Marc A Benninga, Morris Gordon, Nikhil Thapar, Osvaldo Borrelli, Vassiliki Sinopoulou, Merit Tabbers, Anil Darbari, Julie Khlevner, Anna de Geus, Marcin Banasiuk, Mary Boruta, Dawn Dore-Stites, Michelle Gould, Juliette Hawa, Kirsten Brooke Jones, Alexandra Kilgore, Hayat Mousa, Samuel Nurko

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Spectral Analysis of Light-Adapted Electroretinograms in Neurodevelopmental Disorders: Classification with Machine Learning by Paul A. Constable, Javier O. Pinzon-Arenas, Luis Roberto Mercado Diaz, Irene O. Lee, Fernando Marmolejo-Ramos, Lynne Loh, Aleksei Zhdanov, Mikhail Kulyabin, Marek Brabec, David H. Skuse, Dorothy A. Thompson, Hugo Posada-Quintero

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Through each other's eyes: initial results and protocol for the co-design of an observational measure of adolescent-parent interaction using first-person perspective by Nicky Wright, Rebecca M. Pearson, Rebecca M. Pearson, Danielle Crook, Danielle Crook, Alice Bond, Tom Jewell, Tom Jewell

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Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members’ View in an AIP Mutation-Positive Family by Pedro Marques, Sayka Barry, Amy Ronaldson, Arla Ogilvie, Helen L. Storr, Peter J. Goadsby, Michael Powell, Mary N. Dang, Harvinder S. Chahal, Jane Evanson, Ajith V. Kumar, Joan Grieve, Márta Korbonits

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Exploring the experiences of healthcare professionals in South Africa and Uganda around communicating with children about life-threatening conditions: a workshop-based qualitative... by Sue Ziebland, Julia Ambler, Julia Downing, Alan Stein, Elizabeth Namukwaya, Elizabeth Nabirye, Louise Walker, Elizabeth Rapa, Jeffrey R Hanna, Louise J Dalton, Teresa Pollard, Stephanie Santos-Paulo, Yasmin Gogay, David Kavuma, Ruth Mary Kemigisha, Juliet Namyeso, Tracey Brand, Beverley G Neethling

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Developing an adaptive paediatric intensive care unit platform trial with key stakeholders: a qualitative study by Kerry Woolfall, Mark J Peters, Padmanabhan Ramnarayan, Elizabeth Deja, Jennifer Preston, Paul R Mouncey, Julie C Menzies, Doug William Gould, Tracy Karen Mitchell, Shelley Marsh, Jennifer Ainsworth, Hannah Sedgwick, Carly Tibbins

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ImmunoglobuliN in the Treatment of Encephalitis (IgNiTE): protocol for a multicentre randomised controlled trial by R Kneen, M Lim, A Vincent, A J Pollard, W K Chong, L-M Yu, M A Iro, M Sadarangani, M Absoud, C A Clark, A Easton, V Gray, M Pike, T Solomon, L Willis

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Atherosclerotic Risk Factors in Children with Celiac Disease by Anna Rybak, Aldona Wierzbicka, Piotr Socha, Anna Stolarczyk, Bożena Cukrowska, Łukasz Obrycki, Zbigniew Wawer, Roman Janas, Beata Oralewska, Anna Szaflarska-Popławska, Barbara Iwańczak, Elżbieta Cyrta-Jarocka, Urszula Grzybowska-Chlebowczyk, Wojciech Cichy, Grażyna Czaja-Bulsa, Jerzy Socha

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