Genetic testing in pediatric disorders

Merlin G. Butler, Jessica Duis

Frontiers Media SA

Science Genetics Genetics of Common and Rare Diseases

Keywords: Genetic Testing,­Next-generation sequencing,­Microarrays,­Pediatrics,­Gene variants

Perspectives in Genetic and Epigenetic Regulatory Mechanisms in Dental and Craniofacial Biology

Weimin Lin, Dian Jing, Yunshu Wu, Long Guo

Frontiers Media SA

Genetic factors have been proved to be involved in almost all dental and craniomaxillofacial...

Science Genetics Genetics of Common and Rare Diseases

Keywords: craniofacial biology,­Genetics,­epigenetics,­Craniomaxillofacial Disease

Exploiting genetics and genomics to improve the understanding of eye diseases

Denis Plotnikov, Jeremy Guggenheim, Xiaoyi Raymond Gao

Frontiers Media SA

Science Genetics Genetics of Common and Rare Diseases

Keywords: Eye disease,­GWAS,­Ocular conditions

Genetics of Inborn Errors of Metabolism

Elsayed Abdelkreem, Sunita Bijarnia-Mahay

Frontiers Media SA

Science Genetics Genetics of Common and Rare Diseases

Keywords: inborn errors,­Metabolism,­genetic analysis,­variants,­mutations,­genotype-phenotype correlation

Drosophila as a model to study Neurodegenerative diseases

Udai Pandey, Filomena Anna Digilio

Frontiers Media SA

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

Advancing genomics for rare disease diagnosis and therapy development vol II

Weida Tong, Tieliu Shi, Zhichao Liu, Ruth Roberts, Mike Mikailov

Frontiers Media SA

Science Genetics Genetics of Common and Rare Diseases

Keywords: Genomics,­Rare Diseases,­therapy,­Drug Repositioning

Prenatal genetic screening, diagnosis and treatment

Aleksandra Jezela-Stanek, Sheela Nampoothiri, Przemysław Kosinski, Ting Hu

Frontiers Media SA

Science Genetics Genetics of Common and Rare Diseases

Keywords: Prenatal Diagnostics,­Prenatal ultrasound screening,­Genetic Testing

Unravelling the Basis of Non-Invasive Prenatal Screening Results

Luigia De Falco, Antonio Novelli, Elisabetta Pelo, Joe Qi

Frontiers Media SA

Health Pediatrics Genetics of Common and Rare Diseases

Keywords: Prenatal Diagnosis,­Non-invasive prenatal screening,­Discordant results,­fetoplacental chromosomal mosaicism

Rare dyslipidemias

Urh Groselj, Alberico Luigi Catapano, Robert Hegele, Fouzia Sadiq

Frontiers Media SA

Health Medicine

Keywords: Rare Dyslipidemia,­Hypercholesterolemia,­hypocholesterolemia,­Hypertriglyceridemia,­Inborn errors of metabolism,­Cardiovascular Disorders,­Rare genetic syndromes