Results 21 to 30 of about 609,305 (187)

The Role of Deep Phenotyping of Precision Medicine for Rare Bone Diseases

罕见病研究, 2023
Deep phenotyping is a precise and comprehensive approach used for the precise analysis and comprehensive assessment of multi-system phenotypes of the patients.
LI Guozhuang, XU Kexin, WU Zhihong, ZHANG Jianguo, QIU Guixing, WU Nan   +5 more
doaj   +1 more source

Dermatology [PDF]

, 2004
Dermatology continues to develop at a steady pace. In the past few years there have been exciting advances in our understanding of skin structure and function in health and disease and progress in genetics, epidemiology, immunology, pharmacology and ...
Boffa, Michael J.
core   +1 more source

A De Novo case of autosomal dominant mitochondrial membrane protein‐associated neurodegeneration

Molecular Genetics & Genomic Medicine, 2021
Background Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is a genetic neurodegenerative condition previously thought to be inherited only in an autosomal recessive pattern through biallelic pathogenic variants in C19orf12.
Stuart Fraser, Mary Koenig, Laura Farach, Pedro Mancias, Kate Mowrey   +4 more
doaj   +1 more source

A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders

Frontiers in Genetics, 2022
Neurodevelopmental disorders including autism spectrum disorder, intellectual disability, and global developmental delay are among the most common indications for referral to clinical genetics evaluation; and clinical genetic testing is indicated for ...
Amelle Shillington, Amelle Shillington, Amelle Shillington, Martine Lamy, Martine Lamy, Kelli C. Dominick, Kelli C. Dominick, Michael Sorter, Michael Sorter, Craig A. Erickson, Craig A. Erickson, Robert Hopkin, Robert Hopkin   +12 more
doaj   +1 more source

A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service [PDF]

, 2015
Ensuring patient access to genomic information in the face of increasing demand requires clinicians to develop innovative ways of working. This paper presents the first empirical prospective observational cohort study of UK multi-disciplinary genetic ...
A Norris, A Trepanier, Astrid Weber, ATM Dierick-van Daele, B Zellerino, C Barnes, C Cordier, Caroline Benjamin, Catherine Houghton, Chris Edgar, CL Bennett, Claire Foo, D Evans, DH Peters, E McCann, G Martin, G Richardson, Gail Mannion, H Burton, H Skirton, H Skirton, Heather Skirton, Ian Ellis, Jan Birch, JGR Kromberg, JGR Kromberg, L Goldsmith, M Kirk, M McAllister, M McAllister, MD Schwartz, P Craig, R Iredale, RN Battista, S Cohen, SA Cohen, T Rigter, Türem Delikurt, V Hannig   +38 more
core   +1 more source

Type 1 diabetes [PDF]

, 2018
Type 1 diabetes is a chronic autoimmune disease characterised by insulin deficiency and resultant hyperglycaemia. Knowledge of type 1 diabetes has rapidly increased over the past 25 years, resulting in a broad understanding about many aspects of the ...
DiMeglio, Linda A., Evans-Molina, Carmella, Oram, Richard A.   +2 more
core   +1 more source

LncRNA-Top: Controlled deep learning approaches for lncRNA gene regulatory relationship annotations across different platforms

iScience, 2023
Summary: By soaking microRNAs (miRNAs), long non-coding RNAs (lncRNAs) have the potential to regulate gene expression. Few methods have been created based on this mechanism to anticipate the lncRNA-gene relationship prediction.
Weidun Xie, Xingjian Chen, Zetian Zheng, Fuzhou Wang, Xiaowei Zhu, Qiuzhen Lin, Yanni Sun, Ka-Chun Wong   +7 more
doaj   +1 more source

Immunopathogenesis of rheumatoid arthritis [PDF]

, 2017
Rheumatoid arthritis (RA) is the most common inflammatory arthropathy. The majority of evidence, derived from genetics, tissue analyses, models, and clinical studies, points to an immune-mediated etiology associated with stromal tissue dysregulation that
Ahmed, Ai, Ai, Anzilotti, Arend, Astorri, Benham, Bombardieri, Bottini, Bottini, Byng-Maddick, Catrina, Catrina, Charles-Schoeman, Christophorou, Corsiero, Croft, de Aquino, de Hair, Deane, Dennis, Diarra, Ekwall, El-Gabalawy, Ferreira, Filer, Firestein, Firestein, Firestein, Firestein, Firestein, Fonseca, Franz, Gary S. Firestein, Genovese, Hammaker, Harre, Hill, Horiuchi, Huber, Iain B. McInnes, Joosten, Juarez, Kaminsky, Karouzakis, Kelly, Kiener, Kim, Kinslow, Kirschmann, Klarenbeek, Konig, Konig, Krishnadas, Krishnamurthy, Källberg, Langley, Law, Lee, Lefèvre, Linn-Rasker, Liu, Lubberts, Lundström, Makrygiannakis, Matsumoto, McInnes, McInnes, McInnes, McInnes, McKellar, Miossec, Mydel, Müller-Ladner, Nakamachi, Nakano, Nakano, Nam, Okada, Pap, Perlman, Pitzalis, Randen, Rawlings, Raychaudhuri, Raza, Reynisdottir, Reynisdottir, Robertson, Rodríguez-Carrio, Rombouts, Rossetti, Scally, Scher, Schiff, Shi, Shi, Smolen, Smolen, Snir, Sokolove, Stanczyk, Suzuki, Tan, Tran, Tsaprouni, van Beers, van der Helm-van Mil, Vassallo, Wang, Wegner, Weyand, Yamamoto, Yang, Zhang, Zvaifler   +115 more
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Genetics in clinical oncology [PDF]

The Indian Journal of Pediatrics, 1982
This is the first book to provide a thorough grounding in the applications of genetics to cancer medicine, enabling the clinician to convey to patients and their families an understanding of the genetic nature of cancer, and to provide them with accurate advice.
openaire   +2 more sources

Diagnostically relevant facial gestalt information from ordinary photos

eLife, 2014
Craniofacial characteristics are highly informative for clinical geneticists when diagnosing genetic diseases. As a first step towards the high-throughput diagnosis of ultra-rare developmental diseases we introduce an automatic approach that implements ...
Quentin Ferry, Julia Steinberg, Caleb Webber, David R FitzPatrick, Chris P Ponting, Andrew Zisserman, Christoffer Nellåker   +6 more
doaj   +1 more source