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12/2018, Advances in Experimental Medicine and Biology, ISBN 9783319950457, Volume 1085
Book Chapter
12/2018, Advances in Experimental Medicine and Biology, ISBN 9783319950457, Volume 1085
Book Chapter
12/2018, Advances in Experimental Medicine and Biology, ISBN 9783319950457, Volume 1085
Book Chapter
Cell reports (Cambridge), ISSN 2211-1247, 01/2018, Volume 22, Issue 1, pp. 189 - 205
primary cilium | cell maturation | RPE | apical-basal polarity | cilia | retinal pigment epithelium | WNT signaling | CEP290 | ciliopathy | iPS cells | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Induced Pluripotent Stem Cells - pathology | Ciliopathies - therapy | Retinal Pigment Epithelium - metabolism | Cilia - pathology | Retinal Degeneration - genetics | Induced Pluripotent Stem Cells - transplantation | Retinal Degeneration - metabolism | Cilia - metabolism | Cilia - genetics | Mice, Knockout | Protein Kinase C-delta - metabolism | Respiratory Mucosa - pathology | Ciliopathies - genetics | Retinal Pigment Epithelium - pathology | Animals | Ciliopathies - metabolism | Retinal Degeneration - therapy | Mice | Respiratory Mucosa - metabolism | Retinal Degeneration - pathology | Protein Kinase C-delta - genetics | Ciliopathies - pathology | Induced Pluripotent Stem Cells - metabolism | Index Medicus
Journal Article
12/2018, Advances in Experimental Medicine and Biology, ISBN 9783319950457, Volume 1085
Book Chapter
Microscopy and microanalysis, ISSN 1431-9276, 08/2008, Volume 14, Issue S2, pp. 1482 - 1483
Journal Article
Microscopy and microanalysis, ISSN 1431-9276, 08/2008, Volume 14, Issue S2, pp. 1476 - 1477
Journal Article
Microscopy and microanalysis, ISSN 1431-9276, 08/2008, Volume 14, Issue S2, pp. 1478 - 1479
Journal Article
Microscopy and microanalysis, ISSN 1431-9276, 08/2008, Volume 14, Issue S2, pp. 1480 - 1481
Journal Article
Microscopy and microanalysis, ISSN 1431-9276, 08/2008, Volume 14, Issue S2, pp. 146 - 147
Journal Article
Seminars in cell & developmental biology, ISSN 1084-9521, 07/2020
Journal Article
Journal of bone and mineral research, ISSN 0884-0431, 02/2019, Volume 34, Issue 2, pp. 375 - 386
POSTAXIAL POLYDACTYLY | CILIOPATHY | FAM92A | CHIBBY1 | PAPA | Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Humans | Male | Polydactyly - metabolism | Exome | Ciliopathies - genetics | Female | Toes - pathology | Fingers - abnormalities | Nuclear Proteins - genetics | Polydactyly - genetics | Nuclear Proteins - metabolism | Codon, Nonsense | Fingers - pathology | Mice, Knockout | Whole Exome Sequencing | Proteins - genetics | Carrier Proteins - genetics | Homozygote | Animals | Carrier Proteins - metabolism | Ciliopathies - metabolism | Proteins - metabolism | Mice | Toes - abnormalities | Polydactyly - pathology | Ciliopathies - pathology | Genetic aspects | Genetic disorders | Nucleotide sequencing | Analysis | DNA sequencing | Phenotypes | Metatarsal | Genotyping | Polydactyly | Cilia | Limb buds | Linkage analysis | Index Medicus
Journal Article
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Full Text
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
Nature communications, ISSN 2041-1723, 2016, Volume 7, Issue 1, pp. 11491 - 11491
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Humans | Proteins - isolation & purification | Protein Interaction Maps | Spine - abnormalities | Ciliopathies - genetics | Muscle Hypotonia - therapy | DNA Mutational Analysis | Systems Analysis | Mass Spectrometry | HEK293 Cells | Fibroblasts | Dwarfism - pathology | Proteomics - methods | Spine - pathology | Chromatography, Affinity - methods | Molecular Targeted Therapy - methods | Ciliopathies - therapy | Datasets as Topic | Muscle Hypotonia - genetics | Cilia - metabolism | Proteins - genetics | Dwarfism - genetics | Muscle Hypotonia - pathology | Protein Interaction Mapping - methods | Dwarfism - therapy | Proteins - metabolism | Biological Transport - physiology | Ciliopathies - pathology | Index Medicus
Journal Article
Stem cell reports, ISSN 2213-6711, 06/2019, Volume 12, Issue 6, pp. 1354 - 1365
neuron | stem cells | olfaction | anosmia | ciliopathy | Cell & Tissue Engineering | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Olfaction Disorders - genetics | Ciliopathies - therapy | Tumor Suppressor Proteins - metabolism | Olfaction Disorders - pathology | Benzilates | Mice, Transgenic | Neural Stem Cells - pathology | Olfactory Receptor Neurons - metabolism | Smell | Olfaction Disorders - therapy | Stem Cell Transplantation | Ciliopathies - genetics | Animals | Ciliopathies - metabolism | Olfactory Receptor Neurons - pathology | Olfaction Disorders - metabolism | Tumor Suppressor Proteins - genetics | Neural Stem Cells - transplantation | Neural Stem Cells - metabolism | Ciliopathies - pathology | Index Medicus
Journal Article
Nature reviews. Molecular cell biology, ISSN 1471-0072, 09/2017, Volume 18, Issue 9, pp. 533 - 547
Life Sciences & Biomedicine | Science & Technology | Cell Biology | Ciliopathies - genetics | Animals | Ciliopathies - metabolism | Signal Transduction | Microtubule-Associated Proteins - metabolism | Humans | Basal Bodies - metabolism | Cilia - metabolism | Genetic disorders | Cilia and ciliary motion | Causes of | Genotype | Genetic aspects | Cellular signal transduction | Health aspects | Proteins | Signal transduction | Signaling | Molecular modelling | Genes | Transition zone | Organelles | Gating | Cilia | Index Medicus
Journal Article