المؤلفون: Munshi, Sneha

المصدر: Viruses; vol 14, iss 2, 177; 1999-4915

مصطلحات الفهرس: Animals, Chiroptera, Coronavirus, Coronavirus Infections, Viral Proteins, RNA, Messenger, Antiviral Agents, Virus Replication, Frameshifting, Ribosomal, Nucleic Acid Conformation, Frameshift Mutation, SARS-CoV-2, coronavirus, programmed ribosomal frameshifting, therapeutics, translation, Pneumonia, Prevention, Emerging Infectious Diseases, Vaccine Related, Biotechnology, Lung, Infectious Diseases, Biodefense, 5.1 Pharmaceuticals, Development of treatments and therapeutic interventions, Infection, Good Health and Well Being, Microbiology, article

URL: https://escholarship.org/uc/item/7zx6p427
https://escholarship.org/

عناروين إضافية: Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families

المصدر: Nawal , W , Ullah , A , Ullah , U , Farrakh , K , Ahmad , F , Khan , H , Ahmad , G S , Khan , B , Ansar , M , Umm-e-Kalsoom & Ahmad , W 2022 , ' Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families ' , Klinische Padiatrie , vol. 234 , no. 3 , pp. 123-129 .

مصطلحات الفهرس: Xeroderma pigmentosum, Pakistani families, Homozygosity mapping, XPC gene, Novel frameshift mutation, RECOGNITION, MUTATION, SENSOR, STRAND, article

URL: https://curis.ku.dk/portal/da/publications/loss-of-function-variants-in-the-xpc-causes-severe-xeroderma-pigmentosum-in-three-large-consanguineous-families(07b24868-77ef-4319-af62-b1b85a22c23a).html
https://doi.org/10.1055/a-1552-3788

المؤلفون: Igelman, Austin D

المصدر: Ophthalmic genetics; vol 42, iss 6, 664-673; 1381-6810

مصطلحات الفهرس: Humans, Hearing Loss, Sensorineural, Monoacylglycerol Lipases, Arylsulfatases, Cell Cycle Proteins, Codon, Nonsense, Autoantigens, Tomography, Optical Coherence, Retrospective Studies, Visual Acuity, Phenotype, Frameshift Mutation, Adolescent, Adult, Aged, Middle Aged, Female, Male, Usher Syndromes, Retinal Pigment Epithelium, Young Adult, Genetic Testing, Multimodal Imaging, Cone-Rod Dystrophies, ABHD12, ARSG, Atypical usher syndrome, CEP78, cep250, Clinical Research, Genetics, Eye Disease and Disorders of Vision, Neurosciences, Neurodegenerative, Pediatric, Orphan Drug, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Eye, Opthalmology and Optometry, Ophthalmology & Optometry, article

URL: https://escholarship.org/uc/item/0vc5m5k3
https://escholarship.org/

المؤلفون: Niskanen, Julia E

المصدر: Human genetics; vol 140, iss 11, 1535-1545; 0340-6717

مصطلحات الفهرس: Skull, Spine, Tail, Animals, Dogs, Dwarfism, Craniosynostoses, Craniofacial Abnormalities, Limb Deformities, Congenital, Urogenital Abnormalities, Dog Diseases, Tomography, X-Ray Computed, Genotype, Phenotype, Frameshift Mutation, Female, Male, Genetic Association Studies, Dishevelled Proteins, Pediatric, Genetics, Congenital Structural Anomalies, 2.1 Biological and endogenous factors, Aetiology, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine, Genetics & Heredity, article

URL: https://escholarship.org/uc/item/9vh553gc
https://escholarship.org/

المؤلفون: Asano, Takaki

المصدر: The Journal of experimental medicine; vol 218, iss 8, e20202592; 0022-1007

مصطلحات الفهرس: Humans, RNA, Messenger, Codon, Nonsense, Pedigree, Family, Genetics, Population, Evolution, Molecular, Protein Biosynthesis, Alternative Splicing, Genes, Dominant, Mutation, Frameshift Mutation, Alleles, Adolescent, Adult, Middle Aged, Child, Preschool, Infant, Newborn, Female, Male, STAT3 Transcription Factor, HEK293 Cells, Job Syndrome, Rare Diseases, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Medical and Health Sciences, Immunology, article

URL: https://escholarship.org/uc/item/9844326w
https://escholarship.org/

مصطلحات الفهرس: indel mutation, interrater reliability, major clinical study, measurement accuracy, missense mutation, mortality risk, outcome assessment, ovary carcinoma/di [Diagnosis], ovary carcinoma/et [Etiology], ovary tumor/di [Diagnosis], ovary tumor/et [Etiology], overall survival, prediction, priority journal, reproducibility, Sanger sequencing, scoring system, splicing defect, survival analysis, tissue microarray, tumor suppressor gene, whole exome sequencing, whole genome sequencing, protein p53/ec [Endogenous Compound], inframe mutation, ovarian mucinous borderline tumor/di [Diagnosis], ovarian mucinous borderline tumor/et [Etiology], ovarian mucinous carcinoma/di [Diagnosis], ovarian mucinous carcinoma/et [Etiology], stop gain mutation, recurrence risk, female, frameshift mutation, gene frequency, gene mutation, gene overexpression, genetic heterogeneity, genetic screening, heterozygosity loss, high risk patient, human, human tissue, immunohistochemistry, adult, all cause mortality, article, cancer recurrence, cancer survival, cancer tissue, cohort analysis, controlled study, cytoplasm, Article

URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/26827
Modern Pathology
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مصطلحات الفهرس: indel mutation, interrater reliability, major clinical study, measurement accuracy, missense mutation, mortality risk, outcome assessment, ovary carcinoma/di [Diagnosis], ovary carcinoma/et [Etiology], ovary tumor/di [Diagnosis], ovary tumor/et [Etiology], overall survival, prediction, priority journal, reproducibility, Sanger sequencing, scoring system, splicing defect, survival analysis, tissue microarray, tumor suppressor gene, whole exome sequencing, whole genome sequencing, protein p53/ec [Endogenous Compound], inframe mutation, ovarian mucinous borderline tumor/di [Diagnosis], ovarian mucinous borderline tumor/et [Etiology], ovarian mucinous carcinoma/di [Diagnosis], ovarian mucinous carcinoma/et [Etiology], stop gain mutation, recurrence risk, female, frameshift mutation, gene frequency, gene mutation, gene overexpression, genetic heterogeneity, genetic screening, heterozygosity loss, high risk patient, human, human tissue, immunohistochemistry, adult, all cause mortality, article, cancer recurrence, cancer survival, cancer tissue, cohort analysis, controlled study, cytoplasm, Article

URL: https://repository.monashhealth.org/monashhealthjspui/handle/1/26827
Modern Pathology
LibKey Link

المؤلفون: Jansen, Anne ML

المصدر: Familial cancer; vol 19, iss 1, 1-10; 1389-9600

مصطلحات الفهرس: Humans, Colorectal Neoplasms, Syndrome, Genetic Predisposition to Disease, Microfilament Proteins, rab GTP-Binding Proteins, DNA Polymerase III, Pedigree, Frameshift Mutation, Mutation, Missense, Adolescent, Adult, Aged, Middle Aged, Female, Male, Receptor, Notch2, Genes, Neoplasm, Young Adult, Cytochrome P-450 CYP1B1, Exome Sequencing, Candidate variants, Familial colorectal cancer, POLD1, Rare Diseases, Biotechnology, Digestive Diseases, Colo-Rectal Cancer, Cancer, Clinical Research, Genetic Testing, Prevention, Genetics, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Whole Exome Sequencing, Oncology and Carcinogenesis, Oncology & Carcinogenesis, article

URL: https://escholarship.org/uc/item/1740h15c
https://escholarship.org/

المؤلفون: Nguyen, Amanda

المصدر: Genetics; vol 214, iss 2, 333-354; 0016-6731

مصطلحات الفهرس: Escherichia coli, Lactose, Escherichia coli Proteins, Crosses, Genetic, Adaptation, Biological, DNA Replication, Mutagenesis, Mutation, Frameshift Mutation, Alleles, Lac Operon, Plasmids, Selective Breeding, DNA repair, DinB, adaptive mutation, bacterial mating, break-induced replication, copy number variation, mutagenesis, plasmid transfer, recombination-dependent replication, rolling-circle replication, selection, selective gene amplification, Genetics, Biotechnology, Developmental Biology, article

URL: https://escholarship.org/uc/item/85n693mv
https://escholarship.org/

المؤلفون: Slavotinek, Anne

المصدر: Human molecular genetics; vol 29, iss 13, 2218-2239; 0964-6906

مصطلحات الفهرس: Cerebellum, Animals, Zebrafish, Humans, Dwarfism, Nervous System Malformations, RNA-Binding Proteins, Antigens, Neoplasm, Pedigree, Developmental Disabilities, Homozygote, Frameshift Mutation, Mutation, Missense, Exosome Multienzyme Ribonuclease Complex, Clinical Research, Genetics, Neurosciences, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, article

URL: https://escholarship.org/uc/item/4t04689r
https://escholarship.org/