Cargando…

Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?

Detalles Bibliográficos
Autores principales:	Horton, Ari E., Lunke, Sebastian, Sadedin, Simon, Fennell, Andrew P., Stark, Zornitza
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer International Publishing 2023
Materias:	Viewpoint
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10133393/ https://www.ncbi.nlm.nih.gov/pubmed/36732660 http://dx.doi.org/10.1038/s41431-023-01293-0

Ejemplares similares

How much diagnostic safety can we afford, and how should we decide? A health economics perspective
por: Newman-Toker, David E, et al.
Publicado: (2013)

Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia
por: Mordaunt, Dylan A., et al.
Publicado: (2023)

Treatment of Aortic Stenosis in Elderly Individuals in Brazil: How Long Can We Wait?
por: Lopes, Marcelo Antônio Cartaxo Queiroga, et al.
Publicado: (2020)

Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre‐conception carrier screening
por: Forbes, Thomas A, et al.
Publicado: (2022)

Why machine learning (ML) has failed physical activity research and how we can improve
por: Fuller, Daniel, et al.
Publicado: (2022)

The Zoom View: How Does Video Conferencing Affect What Our Patients See in Themselves, and How Can We Do Right by Them?
por: Daar, David A., et al.
Publicado: (2021)

How We Manage Bone Marrow Edema—An Interdisciplinary Approach
por: Baumbach, Sebastian F., et al.
Publicado: (2020)

Leprosy treatment: Can we replace opinions with research?
por: Scollard, David M.
Publicado: (2020)

What can we learn from neonates with COVID-19?
por: Xiao, Tian-Tian, et al.
Publicado: (2020)

Undergraduate medical education; how far should we go?
por: Benamer, Hani TS
Publicado: (2007)

How Do We Decolonize Global Health in Medical Education?
por: Garba, Deen L., et al.
Publicado: (2021)

Atherosclerotic renal artery stenosis: how should we do?
por: Jiang, Ying, et al.
Publicado: (2021)

How should we fund end-of-life care in the US?
por: Arapakis, Karolos, et al.
Publicado: (2022)

Zebra Hunting: How Caring Is Lost When We Chase Diseases
por: Allan-Blitz, Lao-Tzu
Publicado: (2020)

The Impact of 2020 and the Future of Cardiology Training: How Do We Innovate?
por: Kotta, Prasanti Alekhya, et al.
Publicado: (2021)

The attack on universal health coverage in Europe: recession, austerity and unmet needs
por: Reeves, Aaron, et al.
Publicado: (2015)

How Community and Unity Can Help Americans Survive
por: Brook, Robert H., et al.
Publicado: (2020)

The Importance of Health Information on the Internet: How It Saved My Life and How it Can Save Yours
por: Kushniruk, Andre
Publicado: (2019)

How Can Artificial Intelligence Make Medicine More Preemptive?
por: Iqbal, Usman, et al.
Publicado: (2020)

How Feeling Like an Imposter Can Impede Your Success
por: Cader, F. Aaysha, et al.
Publicado: (2021)

How Can Research on Artificial Empathy Be Enhanced by Applying Deepfakes?
por: Yang, Hsuan-Chia, et al.
Publicado: (2022)

Cpipe: a shared variant detection pipeline designed for diagnostic settings
por: Sadedin, Simon P., et al.
Publicado: (2015)

Alcohol and COVID-19: How Do We Respond to This Growing Public Health Crisis?
por: Sugarman, Dawn E., et al.
Publicado: (2020)

Areca nut use among adolescents: How do we prevent and control this problem?
por: Chatterjee, Nilesh, et al.
Publicado: (2023)

Autosomal Recessive Mitochondrial Myopathy due to MICU-1 Variants
por: Finsterer, Josef
Publicado: (2023)

The Elusive Path Toward Measuring Health Outcomes: Lessons Learned From a Pseudo-Randomized Controlled Trial of a Large-Scale Mobile Health Initiative
por: Mechael, Patricia, et al.
Publicado: (2019)

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease
por: Lee, Richard G, et al.
Publicado: (2022)

Can we really teach cognitive behavioral therapy with a massive open online course?
por: Gargot, Thomas, et al.
Publicado: (2020)

Emergence from General Anaesthesia: Can We Discriminate between Emergence Delirium and Postoperative Pain?
por: Somaini, Marta, et al.
Publicado: (2023)

Pro: Can neuropathology really confirm the exact diagnosis?
por: Esiri, Margaret M
Publicado: (2010)

Con: Can neuropathology really confirm the exact diagnosis?
por: Jellinger, Kurt A
Publicado: (2010)

Cancer and War in Ukraine: How the World Can Help Win This Battle
por: Kozhukhov, Sergey, et al.
Publicado: (2022)

A view on dendritic cell immunotherapy in ovarian cancer: how far have we come?
por: Coosemans, A., et al.
Publicado: (2015)

Why We Are Losing the War Against COVID-19 on the Data Front and How to Reverse the Situation
por: Prieto-Merino, David, et al.
Publicado: (2021)

How should we think about the unprecedented weight loss efficacy of incretin-mimetic drugs?
por: Gou, Yang, et al.
Publicado: (2023)

Using V̇o(2max) as a marker of training status in athletes—can we do better?
por: Podlogar, Tim, et al.
Publicado: (2022)

New Directions in Global Health: How Sweden Can Advance Healthier Populations
por: Holmesson, Simon, et al.
Publicado: (2021)

Autosomal recessive cerebellar ataxias
por: Palau, Francesc, et al.
Publicado: (2006)

Autosomal Recessive Stickler Syndrome
por: Nixon, Thomas R. W., et al.
Publicado: (2022)

Prenatal diagnosis of autosomal recessive osteopetrosis: a case report
por: Mistri, Mehul, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_nlegddvirrmvrirv6bfhr4mi8h