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Nature chemical biology, ISSN 1552-4450, 2014, Volume 10, Issue 6, pp. 470 - 476
Journal Article
Nucleic acids research, ISSN 0305-1048, 01/2019, Volume 47, Issue D1, pp. D1018 - D1027
Genetics | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Rare Diseases - genetics | Computational Biology - methods | Genetic Predisposition to Disease - genetics | Knowledge Bases | Biological Ontologies | Humans | Rare Diseases - diagnosis | Databases, Genetic | Whole Genome Sequencing - methods | Congenital Abnormalities - diagnosis | Genetic Variation | Phenotype | Congenital Abnormalities - genetics | Internet | Index Medicus | Database Issue
Journal Article
Nature medicine, ISSN 1078-8956, 03/2010, Volume 16, Issue 3, pp. 295 - 301
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Protein Structure, Tertiary | Enteropathogenic Escherichia coli - immunology | Humans | Antigens, Bacterial - immunology | Galectin 4 - immunology | Galectin 3 - immunology | Epitopes | Recombinant Proteins | Immunity, Innate - immunology | Blood Group Antigens - immunology | Enteropathogenic Escherichia coli - metabolism | Animals | Flow Cytometry | Blood Group Antigens - physiology | Enteropathogenic Escherichia coli - pathogenicity | Galectin 4 - physiology | Immunity, Innate - physiology | Galectins - immunology | Galectins - physiology | Escherichia coli Infections - immunology | Mice | Galectin 3 - physiology | Lectins | Physiological aspects | Blood group antigens | Genetic aspects | Research | Escherichia coli | Proteins | Bacteria | Immunology | Biomedical research | Cellular biology | Index Medicus
Journal Article
Glycobiology (Oxford), ISSN 0959-6658, 06/2016, Volume 26, Issue 6, pp. 665 - 669
glycan recognition | galectins | shotgun glycomics | human milk glycans | glycan microarrays | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Carbohydrate Sequence | Galectins - chemistry | Humans | Recombinant Proteins - chemistry | Recombinant Proteins - biosynthesis | Milk, Human - chemistry | Recombinant Proteins - isolation & purification | Galactose - chemistry | Galectins - biosynthesis | Microarray Analysis | Polysaccharides - chemistry | Protein Binding | Female | Protein Interaction Domains and Motifs | Galectins - isolation & purification | Kinetics | Binding Sites | Index Medicus | ORIGINAL ARTICLES
Journal Article
Genetics in medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 161 - 172
Rare diseases | Genome sequencing | Undiagnosed diseases | Exome sequencing | Phenotyping | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Genomics | Humans | Male | Developmental Disabilities - genetics | Sequence Analysis, DNA | Whole Exome Sequencing - methods | Whole Genome Sequencing | Developmental Disabilities - epidemiology | Exome - genetics | Phenotype | Female | Child | Developmental Disabilities - diagnosis | Bioinformatics | Index Medicus | whole genome sequencing | rare diseases | undiagnosed diseases | Whole exome sequencing | phenotyping
Journal Article
Nature medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Rare Diseases - genetics | Acid Ceramidase - genetics | Rare Diseases - blood | Humans | Child, Preschool | Male | Case-Control Studies | Potassium Channels - genetics | RNA - genetics | Whole Exome Sequencing | Genetic Variation | Sequence Analysis, RNA | RNA Splicing - genetics | Female | Oxidoreductases Acting on CH-CH Group Donors - genetics | Models, Genetic | Mutation | Child | RNA - blood | Cohort Studies | Disease | Splicing | Muscles | Ribonucleic acid--RNA | Gene expression | Disease control | Blood | Gene sequencing | Diseases | Mitochondria | Biopsy | Diagnostic software | Fibroblasts | Diagnostic systems | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, pp. 843 - 853
rare diseases | genetic diseases | Diopt | Geno2MP | ExAC | Zfin | variants of unknown significance | FlyBase | MGI | ClinVar | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Variation | Databases, Genetic | Software | Genome, Human | Humans | Molecular Sequence Annotation | Genetic research | Technology application | Research | Genetic variation | Index Medicus
Journal Article