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Nephrology, dialysis, transplantation, ISSN 0931-0509, 05/2014, Volume 29, Issue suppl 3, pp. iii339 - iii350
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 communications, ISSN 2041-1723, 01/2019, Volume 10, Issue 1, pp. 357 - 357
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Skull - metabolism | Gene Frequency | Humans | Middle Aged | RNA, Messenger - genetics | European Continental Ancestry Group | Male | Cephalometry | Genetic Loci | Tumor Suppressor Protein p53 - genetics | Genetic Variation | Gene Expression Regulation, Developmental | Skull - anatomy & histology | Adolescent | Alleles | Aged, 80 and over | Adult | Female | Aged | Genome, Human | Child | Head | p53 Protein | Genetic diversity | Frequency variation | Carriers | Gene frequency | Frequency spectrum | Skull | Adults | Children | Genetic factors | Variation | Age | Index Medicus | Marcadors bioquÃmics | Genoma humÃ
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, 01/2013, Volume 92, Issue 1, pp. 88 - 98
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | RNA Splice Sites | Microtubule-Associated Proteins - genetics | Pedigree | Base Sequence | Humans | Molecular Sequence Data | Female | Male | Kartagener Syndrome - genetics | Mutation | Dyneins | Axoneme - genetics | Motility | Gene mutations | Cilia and ciliary motion | Physiological aspects | Causes of | Genetic aspects | Research | Epithelium | Movement disorders | Cells | Birth defects | Dynein | Medical genetics | Proteins | Genetic disorders | Genes | Algae | Index Medicus | Heart | Transcription | Sperm | Respiratory tract | Axonemes | Fertility | Infertility | Respiratory tract diseases | Flagella | Testes | Dating | primary ciliary dyskinesia | Cilia | Report
Journal Article
Nature (London), ISSN 0028-0836, 10/2015, Volume 526, Issue 7571, pp. 82 - 89
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Genetics, Population | Receptors, LDL - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Disease - genetics | Health | Genomics | Humans | Molecular Sequence Annotation | Male | United Kingdom | Sequence Analysis, DNA | Genome, Human - genetics | Adiponectin - blood | Exome - genetics | Reference Standards | Genetics, Medical | Alleles | Triglycerides - blood | Female | Lipid Metabolism - genetics | Genetic Variation - genetics | Cohort Studies | Genetic research | Research | Genetic variation | Identification and classification | Health aspects | Population genetics | Proteins | Studies | Haplotypes | Obesity | Genealogy | Disease | Quality | Population | Genomes | Mutation | Index Medicus
Journal Article
Nature communications, ISSN 2041-1723, 01/2019, Volume 10, Issue 1, pp. 1718 - 1718
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Body Weight | Humans | Leptin - metabolism | Homeostasis | Male | Mutation, Missense | Obesity - genetics | Nuclear Receptor Coactivator 1 - metabolism | Genetic Variation | Nuclear Receptor Coactivator 1 - genetics | Gene Deletion | HEK293 Cells | Neurons - metabolism | Mice, Transgenic | Gene Knock-In Techniques | Obesity - metabolism | Phenotype | Animals | Hypothalamus - metabolism | Membrane Potentials | Alleles | Cell Line, Tumor | Heterozygote | Mice | Crosses, Genetic | Obesity | Transcription | Neurons | Body weight | Stat3 protein | Weight loss | Proopiomelanocortin | Body weight loss | Hypothalamus | High fat diet | Depolarization | Energy balance | Clonal deletion | Food intake | Rodents | Steroid receptor coactivator 1 | Receptor mechanisms | Steroids | Food | Index Medicus
Journal Article