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British Journal of Dermatology, ISSN 0007-0963, 12/2015, Volume 173, Issue 6, pp. 1505 - 1513
Journal Article
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 3686 - 17
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2011, Volume 108, Issue 16, pp. 6543 - 6548
Perrault syndrome is a genetically heterogeneous recessive disorder characterized by ovarian dysgenesis and sensorineural hearing loss. In a nonconsanguineous... 
Enzymes | Yeasts | Mitochondria | Phenotypes | Sensorineural hearing loss | Medical genetics | Amino acids | Genetic mutation | Transfer RNA | Apoptosis | NERVOUS-SYSTEM INVOLVEMENT | APOPTOSIS | MARIE-TOOTH-DISEASE | CAENORHABDITIS-ELEGANS | NEUROPATHY | CRYSTAL-STRUCTURE | MULTIDISCIPLINARY SCIENCES | DEAFNESS | GENE ENCODES | AMINOACYLATION | SACCHAROMYCES-CEREVISIAE | Amino Acyl-tRNA Synthetases - genetics | Histidine-tRNA Ligase - metabolism | Gonadal Dysgenesis, 46,XX - genetics | Caenorhabditis elegans - genetics | Saccharomyces cerevisiae - genetics | Alternative Splicing - genetics | Humans | Male | Hearing Loss, Sensorineural - genetics | Mitochondrial Proteins - genetics | Mutation, Missense | Gonadal Dysgenesis, 46,XX - enzymology | Histidine-tRNA Ligase - genetics | Animals | Mitochondrial Proteins - metabolism | Hearing Loss, Sensorineural - enzymology | Saccharomyces cerevisiae - enzymology | Amino Acyl-tRNA Synthetases - metabolism | Caenorhabditis elegans - enzymology | Amino Acid Substitution | Ovarian diseases | Causes of | Physiological aspects | Genetic aspects | Mitochondrial DNA | Hearing loss | Deafness | Yeast | Nematodes | Mutation | Causality | Aminoacylation | Translation | tRNA | RNA-mediated interference | Data processing | Lethality | Nucleotides | Gene deletion | Deletion mutant | Hereditary diseases | Heterozygosity | Gonadal dysgenesis | Fertility | genomics | Codons | Linkage analysis | Siblings | Index Medicus | Biological Sciences
Journal Article
Journal of Clinical Periodontology, ISSN 0303-6979, 02/2008, Volume 35, Issue 2, pp. 165 - 174
Objectives: Assessment of patient‐related factors contributing (1) to tooth loss and (2) to the quality of treatment outcome 10 years after initiation of... 
interleukin‐1 polymorphism | long‐term success after systematic periodontal therapy | supportive periodontal therapy (SPT) | periodontal risk factors | tooth loss | Interleukin-1 polymorphism | Tooth loss | Supportive periodontal therapy (SPT) | Periodontal risk factors | Long-term success after systematic periodontal therapy | LONG-TERM | SURVIVAL | DEPENDENT DIABETES-MELLITUS | TREATED PATIENTS | interleukin-1 polymorphism | CARE | SUPPORTIVE THERAPY | OSSEOUS RESECTIVE SURGERY | IL-1 GENOTYPE | long-term success after systematic periodontal therapy | DENTISTRY, ORAL SURGERY & MEDICINE | DISEASE | CLINICAL-PARAMETERS | Smoking - adverse effects | Interleukin-1 - genetics | Periodontal Diseases - complications | Age Factors | Humans | Middle Aged | Male | Mandibular Diseases - therapy | Tooth Loss - genetics | Tooth Loss - diagnostic imaging | Adult | Female | Maxillary Diseases - therapy | Alveolar Bone Loss - therapy | Periodontal Diseases - therapy | Alveolar Bone Loss - diagnostic imaging | Maxillary Diseases - complications | Alveolar Bone Loss - complications | Treatment Outcome | Tooth Loss - epidemiology | Maxillary Diseases - diagnostic imaging | Oral Hygiene | Periodontal Diseases - diagnostic imaging | Radiography | Mandibular Diseases - diagnostic imaging | Epidemiologic Methods | Adolescent | Sex Factors | Polymorphism, Genetic - genetics | Aged | Mandibular Diseases - complications | Index Medicus | Dentistry
Journal Article
Neurochemical Research, ISSN 0364-3190, 6/2019, Volume 44, Issue 6, pp. 1494 - 1507
Journal Article
Brain, ISSN 0006-8950, 11/2015, Volume 138, Issue 11, pp. 3180 - 3192
Journal Article
FEBS Journal, ISSN 1742-464X, 03/2013, Volume 280, Issue 6, pp. 1542 - 1562
An enzyme's active site is essential to normal protein activity such that any disruptions at this site may lead to dysfunction and disease. Nonsynonymous... 
proteome‐wide analysis | SNV | SNP | active site | genetic variance | proteome-wide analysis | nsSNP | nsSNV | MOLECULAR CHARACTERIZATION | 3-PHOSPHOGLYCERATE DEHYDROGENASE-DEFICIENCY | POINT MUTATION | TYROSINE KINASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | ALPHA-GLUCOSIDASE | DIABETIC-NEPHROPATHY | COMMON MUTATION | GENE POLYMORPHISMS | GLYCOGEN-STORAGE-DISEASE | INSULIN-RESISTANCE | Abnormalities, Multiple - pathology | Proteome - genetics | Humans | Structure-Activity Relationship | Syndactyly - pathology | Proteome - chemistry | Aspartic Acid - genetics | Genetic Variation | Glycogen Storage Disease - pathology | Phenylalanine - chemistry | Arginine - genetics | Proteomics - methods | Abnormalities, Multiple - genetics | Tyrosine - chemistry | Catalytic Domain | Tooth Abnormalities - genetics | Molecular Sequence Annotation | Carbohydrate Metabolism | Histidine - genetics | Lacrimal Apparatus Diseases - genetics | Hearing Loss - pathology | Proteome - analysis | Metabolomics - methods | Arginine - chemistry | Hearing Loss - genetics | Glycogen Storage Disease - genetics | Phenylalanine - genetics | Tooth Abnormalities - pathology | Polymorphism, Single Nucleotide | Aspartic Acid - chemistry | Enzyme Activation | Genome, Human | Histidine - chemistry | Lacrimal Apparatus Diseases - pathology | Amino Acid Substitution | Cluster Analysis | Syndactyly - genetics | Tyrosine - genetics | Glucose metabolism | Glycogen | Analysis | Transferases | Genomics | Genetic research | Physiological aspects | Amino acids | Carbohydrate metabolism | Proteins | Enzymes | Proteomics | Index Medicus
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2015, Volume 53, Issue 2, pp. 98 - 110
Journal Article