Results 21 to 30 of about 1,217,808 (321)

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

Clinical genetics: Medical genetics [PDF]

European Journal of Human Genetics, 2006
In these last years, there has been a proliferation of new textbooks and of new editions of classical textbooks on medical genetics targeted at medical students. However, these books are all over 400 pages with increasingly complex explanations of new discoveries and concepts.
openaire   +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
core   +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

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

How genomic information is accessed in clinical practice: an electronic survey of UK general practitioners. [PDF]

, 2020
Genomic technologies are having an increasing impact across medicine, including primary care. To enable their wider adoption and realize their potential, education of primary health-care practitioners will be required.
Evans, WRH, Hayward, J, Qureshi, N, Rafi, I, Tranter, J   +4 more
core   +2 more sources

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

Frontiers in Genetics, 2019
Prenatal ultrasound (US) abnormalities often pose a clinical dilemma and necessitate facilitated investigations in the search of diagnosis. The strategy of pursuing fetal whole-exome sequencing (WES) for pregnancies complicated by abnormal US findings is
Lior Greenbaum, Lior Greenbaum, Lior Greenbaum, Ben Pode-Shakked, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, Michal Dicastro-Keidar, Anat Bar-Ziv, Nurit Goldstein, Haike Reznik-Wolf, Hana Poran, Amihai Rigbi, Ortal Barel, Aida M. Bertoli-Avella, Peter Bauer, Miriam Regev, Miriam Regev, Annick Raas-Rothschild, Annick Raas-Rothschild, Elon Pras, Elon Pras, Michal Berkenstadt, Michal Berkenstadt   +22 more
doaj   +1 more source

Analysis of Gene-Environment Interactions Related to Developmental Disorders

Frontiers in Pharmacology, 2022
Various genetic and environmental factors are associated with developmental disorders (DDs). It has been suggested that interaction between genetic and environmental factors (G × E) is involved in the etiology of DDs.
Yuhei Nishimura, Kenji Kurosawa, Kenji Kurosawa   +2 more
doaj   +1 more source

Genetics of autistic disorders : review and clinical implications [PDF]

, 2009
Twin and family studies in autistic disorders (AD) have elucidated a high heritability of AD. In this literature review, we will present an overview on molecular genetic studies in AD and highlight the most recent findings of an increased rate of copy ...
Duketis, Eftichia, Freitag, Christine M., Klauck, Sabine M., Staal, Wouter, Waltes, Regina   +4 more
core   +4 more sources

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