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Journal of Medical Genetics, ISSN 0022-2593, 2019, Volume 56, Issue 8, pp. 536 - 542
Next generation sequencing (NGS) generates a large amount of genetic data that can be used to better characterise disease-causing variants. Our aim was to... 
inherited retinal diseases | minor allele frequency | pathogenic variant | autosomal dominant | CARBONIC-ANHYDRASE-IV | DIAGNOSIS | R14W | PREVALENCE | DEGENERATION | FAMILIES | MUTATION | GENETICS & HEREDITY | FSCN2 | RETINITIS-PIGMENTOSA | Databases | Next-generation sequencing | Disease | Gene frequency | Genes | Alleles | Retina | Genomes | Heredity | Mutation | Data bases | Index Medicus
Journal Article
Plant Pathology, ISSN 0032-0862, 04/2013, Volume 62, Issue 2, pp. 309 - 324
Sclerotinia sclerotiorum is an important pathogen of many crop plants which also infects wild hosts. The population structure of this fungus was studied for... 
microsatellites | Sclerotinia sclerotiorum | diversity | wild host | Ranunculus acris | Sclerotinia subarctica | Wild host | Microsatellites | Diversity | AGRONOMY | MICROSATELLITE | GENETIC DIFFERENTIATION | SOFTWARE | PLANT SCIENCES | COLUMBIA BASIN | CLONAL LINEAGES | RANUNCULUS-ACRIS | ALLELE FREQUENCIES | OILSEED RAPE | CANOLA | PLANT-PATHOGENIC FUNGUS | RNA | Analysis | Plants
Journal Article
by He, L and Pang, X and Liu, H and Chai, Y and Wu, H and Yang, T
Clinical Genetics, ISSN 0009-9163, 04/2018, Volume 93, Issue 4, pp. 899 - 904
The interpretation of the targeted next‐generation sequencing (NGS) results can be challenging for variants identified in the sporadic deaf patients. In this... 
parental genotyping | sporadic | pathogenic variant | deafness | targeted next‐generation sequencing | targeted next-generation sequencing | VARIANTS | GENETICS & HEREDITY | Deafness | Medical research | Analysis | Deaf | Genes | Medicine, Experimental | Genetic aspects | Genotyping | Gene frequency | Copy number | Alleles
Journal Article
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 6/2002, Volume 99, Issue 13, pp. 9067 - 9071
Journal Article
Journal Article
Animal Science Journal, ISSN 1344-3941, 10/2009, Volume 80, Issue 5, pp. 498 - 509
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 5, pp. 1155 - 1163
Purpose: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism, caused by pathogenic variants in ATP7B. We aimed to (1) perform a... 
prevalence | database | ATP7B | Wilson disease | pathogenic variants | GUIDELINES | CHINESE | IDENTIFICATION | KOREAN POPULATION | MOLECULAR PATHOLOGY | GENETICS & HEREDITY | MUTATIONS | CARRIER FREQUENCY | ATP7B GENE | Estimates
Journal Article