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Klinische Monatsblatter fur Augenheilkunde, ISSN 0023-2165, 2018, Volume 235, Issue 3, pp. 273 - 280
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 02/2016, Volume 37, Issue 2, pp. 170 - 174
Deafblindness is part of several genetic disorders. We investigated a consanguineous Egyptian family with two siblings affected by congenital hearing loss and... 
retinal ciliopathy | enamel dysplasia | peroxisome biogenesis disorders | PEX6 | deafblindness | Enamel dysplasia | Retinal ciliopathy | Peroxisome biogenesis disorders | Deafblindness | RETINAL DEGENERATION | CONNECTING CILIUM | OXIDATION | CELLS | ADULT REFSUM-DISEASE | MOUSE | THERAPY | GENE | USHER-SYNDROME | GENETICS & HEREDITY | Microcephaly - genetics | White Matter - metabolism | Humans | Molecular Sequence Data | Male | Mutation, Missense | Retinal Degeneration - metabolism | Ameloblasts - pathology | Young Adult | Ameloblasts - metabolism | Microcephaly - pathology | Female | Dental Enamel Hypoplasia - metabolism | Child | Siblings | Amino Acid Sequence | ATPases Associated with Diverse Cellular Activities | Gene Expression | Cilia - pathology | Odontoblasts - metabolism | Retinal Degeneration - genetics | Deaf-Blind Disorders - metabolism | Microcephaly - metabolism | Adenosine Triphosphatases - metabolism | Cilia - metabolism | White Matter - pathology | Homozygote | Deaf-Blind Disorders - pathology | Animals | Pedigree | Adenosine Triphosphatases - genetics | Consanguinity | Mice | Photoreceptor Cells, Vertebrate - metabolism | Deaf-Blind Disorders - genetics | Dental Enamel Hypoplasia - pathology | Retinal Degeneration - pathology | Dental Enamel Hypoplasia - genetics | Odontoblasts - pathology | Photoreceptor Cells, Vertebrate - pathology | Dysplasia | Biosynthesis | Genetic disorders | Genomics | Photoreceptors | Enamel | Index Medicus
Journal Article
medizinische genetik, ISSN 0936-5931, 6/2017, Volume 29, Issue 2, pp. 217 - 224
Nonsense-Mutationen weisen eine Inzidenz von etwa 12 % bezogen auf alle krankheitsverursachenden Mutationen auf. Eine ähnliche Rate gilt für... 
Nonsense mutation | Read-through | Gynecology | Oncology | Medicine/Public Health, general | Pharmacogenetic therapy | Überlesen | Premature termination codon | Medicine & Public Health | Nonsense-Mutation | Pharmakogenetische Therapie | Prämatures Terminationscodon | Reproductive Medicine | TRID
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 12/2015, Volume 99, Issue 12, pp. 1725 - 1731
Journal Article
Journal Article
medizinische genetik, ISSN 0936-5931, 06/2017, Volume 29, Issue 2, p. 217
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s11825-017-0136-4... 
Proteins | Codon | Analysis | Aminoglycosides | Genetic aspects
Journal Article
Developmental Cell, ISSN 1534-5807, 06/2013, Volume 25, Issue 5, pp. 435 - 436
Intracellular vesicle transport defects can induce retinal degeneration and photoreceptor cell death, but the molecular connections between these processes... 
APOPTOSIS | DEVELOPMENTAL BIOLOGY | FUSION | CELL-DEATH | CELL BIOLOGY | Proto-Oncogene Proteins c-bcl-2 - metabolism | Animals | Membrane Fusion | Retinal Cone Photoreceptor Cells - pathology | Apoptosis | Soluble N-Ethylmaleimide-Sensitive Factor Attachment Proteins - metabolism | Fishing | Index Medicus
Journal Article
Medizinische Genetik, ISSN 0936-5931, 01/2017, Volume 29, Issue 2, pp. 217 - 224
Nonsense-Mutationen weisen eine Inzidenz von etwa 12 % bezogen auf alle krankheitsverursachenden Mutationen auf. Eine ähnliche Rate gilt für... 
mRNA turnover | mRNA | Mutation
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 12/2015, Volume 99, Issue 12, pp. 1725 - 1731
Journal Article
Nature Genetics, ISSN 1061-4036, 2007, Volume 39, Issue 7, pp. 889 - 895
Journal Article
Journal Article
Cellular and Molecular Life Sciences, ISSN 1420-682X, 10/2015, Volume 72, Issue 20, pp. 3953 - 3969
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2016, Volume 11, Issue 2, pp. e0148874 - e0148874
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 02/2015, Volume 24, Issue 4, pp. 972 - 986
Journal Article