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Nucleic Acids Research, ISSN 0305-1048, 2015, Volume 43, Issue W1, pp. W301 - W305
Massively parallel sequencing of microbial genetic markers (MGMs) is used to uncover the species composition in a multitude of ecological niches. These... 
HUMAN MICROBIOME | BACTERIA | TAXONOMY ANALYSIS | COMMUNITY | BIOCHEMISTRY & MOLECULAR BIOLOGY | PLATFORMS | DIVERSITY | IDENTIFICATION | RARE BIOSPHERE | 16S RIBOSOMAL-RNA | ACCURACY | Genetic Variation | Software | Genetic Markers | Internet | High-Throughput Nucleotide Sequencing - methods | Metagenomics - methods | Index Medicus | Web Server issue
Journal Article
Nature Communications, ISSN 2041-1723, 12/2015, Volume 6, Issue 1, pp. 10206 - 10206
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 11/2018, Volume 71, pp. 265.e1 - 265.e7
The estimation of pathogenicity and penetrance of novel prion protein gene ( ) variants presents significant challenges, particularly in the absence of family... 
Rare gene variant | Novel gene variant interpretation | Prion protein | Inherited prion disease | Creutzfeldt-Jakob disease | PATHOGENICITY | MOLECULAR PATHOLOGY | HUMANS | CREUTZFELDT-JAKOB-DISEASE | NEUROSCIENCES | GERIATRICS & GERONTOLOGY | Nervous system diseases | Neurosciences | Analysis | Prions | Genes
Journal Article
MOVEMENT DISORDERS, ISSN 0885-3185, 01/2014, Volume 29, Issue 1, pp. 143 - 147
Background Rare autosomal-dominant mutations in ANO3 and GNAL have been recently shown to represent novel genetic factors underlying primary torsion dystonia... 
rare variants | PATHOGENESIS | GNAL | gene | dystonia | DISEASE | MUTATIONS | CLINICAL NEUROLOGY | ANO3
Journal Article
Journal Article
Movement Disorders, ISSN 0885-3185, 01/2014, Volume 29, Issue 1, pp. 143 - 147
Rare autosomal-dominant mutations in ANO3 and GNAL have been recently shown to represent novel genetic factors underlying primary torsion dystonia (PTD) with... 
rare variants | GNAL | gene | dystonia | ANO3 | Dystonia | Gene | Rare variants | Humans | Middle Aged | GTP-Binding Protein alpha Subunits - genetics | Male | Chloride Channels - genetics | Mutation, Missense | Dystonia Musculorum Deformans - genetics | Young Adult | Aged, 80 and over | Adult | Female | Aged | Anoctamins | Government aid | Index Medicus
Journal Article
Circulation: Cardiovascular Genetics, ISSN 1942-325X, 02/2016, Volume 9, Issue 1, pp. 64 - 70
Journal Article
International Journal of Dermatology, ISSN 0011-9059, 12/2017, Volume 56, Issue 12, pp. 1406 - 1413
BackgroundGenodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth. Ten... 
KINDLER-SYNDROME | KINDLIN-1 | PROTEIN | MUTATION | VII COLLAGEN | SPECTRUM | DYSTROPHIC EPIDERMOLYSIS-BULLOSA | IDENTIFICATION | DERMATOLOGY | Rare Diseases - genetics | 1-Acylglycerol-3-Phosphate O-Acyltransferase - genetics | Endonucleases - genetics | Lipid Metabolism, Inborn Errors - genetics | Sjogren-Larsson Syndrome - genetics | Xeroderma Pigmentosum - genetics | Humans | Male | Mitochondrial Proteins - genetics | Ichthyosis Vulgaris - genetics | INDEL Mutation | Skin Diseases, Genetic - genetics | Exome | Epidermolysis Bullosa - genetics | DNA Mutational Analysis | Intermediate Filament Proteins - genetics | Female | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Periodontal Diseases - genetics | Protoporphyrinogen Oxidase - genetics | Porphyria, Variegate - genetics | Photosensitivity Disorders - genetics | Epidermolysis Bullosa Simplex - genetics | Flavoproteins - genetics | Membrane Proteins - genetics | Collagen Type VII - genetics | Aldehyde Oxidoreductases - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Blister - genetics | Keratin-14 - genetics | Homozygote | Phenotype | Ichthyosis, Lamellar - genetics | Pedigree | Lipoxygenase - genetics | Consanguinity | Epidermolysis Bullosa Dystrophica - genetics | Muscular Diseases - genetics | Ichthyosiform Erythroderma, Congenital - genetics | Genetic research | Skin | Nucleotide sequencing | Genes | DNA sequencing | Sebaceous glands | Nails | Glands | Teeth | Disorders | Homozygosity | Tissues | Follicles | Gene sequencing | Genodermatosis | Gene mapping | Index Medicus
Journal Article
Journal Article