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Nature (London), ISSN 0028-0836, 01/2010, Volume 463, Issue 7279, p. 308
Journal Article
Nature (London), ISSN 0028-0836, 01/2010, Volume 463, Issue 7279, pp. 308 - 309
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Cilia - physiology | Dyneins - metabolism | Flagella - physiology | Cilia - pathology | Ciliary Motility Disorders - pathology | Movement - physiology | Models, Biological | Humans | Periodicity | Axoneme - physiology | Ciliary Motility Disorders - metabolism
Journal Article
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 9, pp. 995 - 1003
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Ependyma - pathology | Axonemal Dyneins - metabolism | Humans | Axonemal Dyneins - genetics | Male | Kartagener Syndrome - genetics | Gene Knockdown Techniques | Respiratory Mucosa - pathology | Cilia - ultrastructure | Gene Order | Disease Models, Animal | Gene Targeting | Ependyma - metabolism | Zebrafish | Nerve Tissue Proteins - genetics | Cilia - metabolism | Cilia - genetics | Mice, Knockout | Protein Transport | Nerve Tissue Proteins - metabolism | Phenotype | Animals | Intracellular Space - metabolism | Kartagener Syndrome - metabolism | Protein Binding | Mice | Mutation | Respiratory Mucosa - metabolism | Physiological aspects | Genetic aspects | Research | Cilia and ciliary motion | Dynein | Studies | Proteins | Heart | Motility | Asymmetry | Rodents | Dyslexia | Gene expression | Experiments | Defects | Index Medicus
Journal Article
Human molecular genetics, ISSN 0964-6906, 2015, Volume 24, Issue 5, pp. 1410 - 1419
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Humans | Molecular Sequence Data | Infant | Male | Ellis-Van Creveld Syndrome - genetics | Genetic Loci | Mutation, Missense | Saudi Arabia | Bone and Bones - metabolism | Cell Cycle Proteins - genetics | Female | Chromosomes, Human, Pair 5 - genetics | Disease Models, Animal | Fibroblasts - metabolism | Amino Acid Sequence | Genome-Wide Association Study | Cilia - pathology | Europe | Cell Cycle Proteins - metabolism | Zebrafish | Chromosome Mapping | Chromosomes, Human, Pair 5 - metabolism | Magnetic Resonance Imaging | Phenotype | Animals | Pedigree | Centrioles - genetics | Fibroblasts - cytology | Centrioles - metabolism | Bone and Bones - abnormalities | Cohort Studies | Index Medicus
Journal Article
Nature communications, ISSN 2041-1723, 2017, Volume 8, Issue 1, pp. 14279 - 14279
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Sequence Deletion | Sperm Motility - genetics | Axonemal Dyneins - metabolism | Humans | Child, Preschool | Male | Kartagener Syndrome - genetics | Phylogeny | Cytoplasm - pathology | Axoneme - pathology | HEK293 Cells | Apoptosis Regulatory Proteins - genetics | Cilia - ultrastructure | Adult | Female | Genetic Diseases, X-Linked - genetics | Microtubule Proteins - genetics | Child | Infant, Newborn | Disease Models, Animal | Microscopy, Electron, Transmission | Cilia - pathology | Genes, X-Linked - genetics | Molecular Chaperones - genetics | Zebrafish | Protein Folding | Apoptosis Regulatory Proteins - metabolism | Whole Exome Sequencing | Point Mutation | Sequence Alignment | Animals | Pedigree | Kartagener Syndrome - pathology | Adolescent | Genetic Diseases, X-Linked - pathology | HSP90 Heat-Shock Proteins - metabolism | Index Medicus | Life Sciences | Genetics
Journal Article
Nature cell biology, ISSN 1465-7392, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Life Sciences & Biomedicine | Science & Technology | Cell Biology | Humans | Pregnancy Proteins - genetics | Databases, Genetic | Suppressor Factors, Immunologic - genetics | Photoreceptor Cells - ultrastructure | Pregnancy Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Genetic Testing - methods | Suppressor Factors, Immunologic - metabolism | Membrane Proteins - deficiency | Transfection | RNA Interference | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genomics - methods | Genetic Predisposition to Disease | Genome-Wide Association Study | Reproducibility of Results | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Mice, Inbred C57BL | Abnormalities, Multiple | Genetic Markers | Eye Abnormalities - genetics | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Mice, Knockout | Proteins - genetics | Caenorhabditis elegans - ultrastructure | Phenotype | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Proteins - metabolism | Photoreceptor Cells - metabolism | Zebrafish - metabolism | Retina - abnormalities | High-Throughput Nucleotide Sequencing | Ciliary Motility Disorders - metabolism | Mutation | Ciliary Motility Disorders - genetics | RNA | Cilia and ciliary motion | Genetic research | Biosynthesis | Genetic aspects | Research | Gene expression | Properties | Index Medicus | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
Journal Article
American journal of human genetics, ISSN 0002-9297, 09/2014, Volume 95, Issue 3, pp. 257 - 274
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Immunoprecipitation | Microtubule-Associated Proteins - genetics | Axonemal Dyneins - metabolism | Microtubule-Associated Proteins - metabolism | Humans | Axonemal Dyneins - genetics | Immunoblotting | Male | Kartagener Syndrome - genetics | Axoneme - genetics | Embryo, Mammalian - metabolism | In Situ Hybridization | Female | Cilia - pathology | Cells, Cultured | Mutation - genetics | Zebrafish - growth & development | Cilia - metabolism | Zebrafish - genetics | Mice, Knockout | Microtubule-Associated Proteins - physiology | Two-Hybrid System Techniques | Exome - genetics | Phenotype | Animals | Embryo, Mammalian - cytology | Pedigree | Kartagener Syndrome - pathology | Zebrafish - metabolism | Fluorescent Antibody Technique | Kartagener Syndrome - metabolism | Mice | Genetic aspects | Research | Gene mutations | Movement disorders | Dynein | Proteins | Cytoskeleton | Zebrafish | Mutation | Cells | Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 346 - 356
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Respiratory System - pathology | Axoneme - metabolism | Humans | Male | Kartagener Syndrome - genetics | Drosophila melanogaster - genetics | Axoneme - genetics | Axoneme - pathology | Drosophila melanogaster - metabolism | Exome | Infertility, Male - genetics | Tumor Suppressor Proteins - genetics | Female | Dyneins - metabolism | Protein Structure, Tertiary | Tumor Suppressor Proteins - metabolism | Cilia - pathology | Gene Expression Regulation | Infertility, Male - pathology | Cilia - metabolism | Cilia - genetics | Proteins - genetics | Animals | Proteins - metabolism | Pedigree | Respiratory System - metabolism | Kartagener Syndrome - pathology | Kartagener Syndrome - metabolism | Infertility, Male - metabolism | High-Throughput Nucleotide Sequencing | Mice | Dyneins - genetics | Mutation | Gene mutations | Cilia and ciliary motion | Physiological aspects | Genetic aspects | Research | Health aspects | Movement disorders | Proteins | Genetic disorders | Fluorescence | Gene expression | Ribonucleic acid--RNA | Cytoplasm | Index Medicus | Report
Journal Article
Osteoarthritis and cartilage, ISSN 1063-4584, 07/2019, Volume 27, Issue 7, pp. 1064 - 1074
Journal Article