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Tomoki Kosho, Ken-ichi Matsumoto, Delfien Syx, Shujiro Hayashi Frontiers Media SA
Science Genetics Genetics of Common and Rare Diseases
Keywords: Ehlers-Danlos syndromes,pathomechanisms,rare types,spectrum,case reports
Xianyong Yin, Yonghu Sun, Yunqing Ren
Frontiers Media SA
Inflammatory and immune disease is a broad term for a variety of diseases with presumed...
Keywords: inflammatory and immune diseases,susceptibility,Genome-Wide Association Study,high-throughput sequencing,Integrative study,Mechanism
Merlin G. Butler, Jessica Duis
Keywords: Genetic Testing,Next-generation sequencing,Microarrays,Pediatrics,Gene variants
Weimin Lin, Dian Jing, Yunshu Wu, Long Guo
Genetic factors have been proved to be involved in almost all dental and craniomaxillofacial...
Keywords: craniofacial biology,Genetics,epigenetics,Craniomaxillofacial Disease
Denis Plotnikov, Jeremy Guggenheim, Xiaoyi Raymond Gao
Keywords: Eye disease,GWAS,Ocular conditions
Elsayed Abdelkreem, Sunita Bijarnia-Mahay
Keywords: inborn errors,Metabolism,genetic analysis,variants,mutations,genotype-phenotype correlation
Udai Pandey, Filomena Anna Digilio
Science Neuroscience Neurodegeneration
Keywords: Drosophila melanogaster,neurodegeneration,Neurodegenerative Diseases,Human disease model,animal model,Amyotrophic Lateral Sclerosis,Alzheimer Disease,Parkinson Disease,polyglutamine diseases,Prion Diseases
Weida Tong, Tieliu Shi, Zhichao Liu, Ruth Roberts, Mike Mikailov
Keywords: Genomics,Rare Diseases,therapy,Drug Repositioning
Aleksandra Jezela-Stanek, Sheela Nampoothiri, Przemysław Kosinski, Ting Hu
Keywords: Prenatal Diagnostics,Prenatal ultrasound screening,Genetic Testing
Luigia De Falco, Antonio Novelli, Elisabetta Pelo, Joe Qi
Health Pediatrics Genetics of Common and Rare Diseases
Keywords: Prenatal Diagnosis,Non-invasive prenatal screening,Discordant results,fetoplacental chromosomal mosaicism
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Genetics of Common and Rare Diseases
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