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The American Journal of Human Genetics, ISSN 0002-9297, 1999, Volume 64, Issue 4, pp. 1024 - 1035
Journal Article
Critical Arts, ISSN 0256-0046, 01/2019, Volume 33, Issue 1, pp. 113 - 114
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2000, Volume 26, Issue 3, pp. 324 - 327
X-linked congenital stationary night blindness (XLCSNB) is characterized by impaired scotopic vision with associated ocular symptoms such as myopia, hyperopia,... 
SWISS-MODEL | LOCALIZATION | RP3 | GROWTH | GENETICS & HEREDITY | EXPRESSION | LOCUS | FAMILY | Sequence Deletion | Multigene Family | Retina - metabolism | Testis - metabolism | Genes | Humans | DNA, Complementary - genetics | Eye Proteins - chemistry | Molecular Sequence Data | Male | Gene Expression Profiling | Proteoglycans - chemistry | Muscle Proteins - biosynthesis | Brain - metabolism | Proteoglycans - deficiency | Kidney - metabolism | Repetitive Sequences, Amino Acid | DNA Mutational Analysis | Nerve Tissue Proteins - biosynthesis | Female | Eye Proteins - genetics | Muscles - metabolism | Night Blindness - genetics | X Chromosome - genetics | Electroretinography | Amino Acid Sequence | Leucine - analysis | Models, Molecular | Chromosome Mapping | Genetic Markers | Organ Specificity | Reverse Transcriptase Polymerase Chain Reaction | Nerve Tissue Proteins - genetics | Genetic Heterogeneity | Amino Acid Motifs | Muscle Proteins - genetics | Sequence Homology, Amino Acid | Glycosylphosphatidylinositols - metabolism | Pedigree | Proteoglycans - physiology | Protein Conformation | Eye Proteins - physiology | Night Blindness - classification | Retina - pathology | Proteoglycans - genetics | Care and treatment | Gene mutations | Night blindness | Genetic aspects | Research | Health aspects | Identification and classification | Risk factors
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 1999, Volume 83, Issue 8, pp. 914 - 918
Aims-To describe two phenotypic variations of autosomal recessive retinal dystrophy occurring in a consanguineous family in a pseudodominant pattern, resulting... 
PERIPHERIN-RDS GENE | CONE-ROD DYSTROPHY | MACULAR DYSTROPHY | OPHTHALMOLOGY | RETINITIS-PIGMENTOSA | PATTERN DYSTROPHY | STARGARDT-DISEASE | DEGENERATION | DELETION
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 1997, Volume 60, Issue 6, pp. 1468 - 1473
Clinical reexamination and DNA linkage analysis were carried out in an X-linked progressive cone dystrophy (XLPCD) family, previously described by Pinckers and... 
LINKAGE ANALYSIS | CARRIERS | LOCUS | K KM GENETICS & HEREDITY | GENETICS & HEREDITY | DEGENERATION | Retinal Diseases - genetics | Retinal Cone Photoreceptor Cells | Humans | Myopia | Male | Chromosome Mapping | Genetic Markers | Visual Acuity | Lod Score | Syndrome | Pedigree | X Chromosome | Female | Color Perception | Genetic Linkage
Journal Article
Journal Article
Nederlands tijdschrift voor geneeskunde, ISSN 0028-2162, 08/1995, Volume 139, Issue 34, p. 1760
Journal Article
Aperture, ISSN 0003-6420, 10/2019, Issue 236, pp. 18 - 19
“Every documentary body of work is made with the intention of it becoming a book in its final manifestation,” says Max Pinckers. The Brussels-based... 
Photographers | Photography | 21st century | Personal experiences | Photographs | Books
Trade Publication Article
Human Molecular Genetics, ISSN 0964-6906, 1998, Volume 7, Issue 7, pp. 1185 - 1192
X-linked retinoschisis (XLRS) is the most common cause of juvenile macular degeneration in males, resulting in vision loss early in life. The gene involved in... 
LOCALIZATION | RS | YAC CONTIG | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY
Journal Article
Nederlands Tijdschrift voor Geneeskunde, ISSN 0028-2162, 08/1995, Volume 139, Issue 34, p. 1760
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 09/1997, Volume 34, Issue 9, pp. 767 - 771
We describe two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia, Boucher-Neuhäuser syndrome, a rare but distinct... 
Ataxia | Boucher-Neuhauser syndrome | Chorioretinal degeneration | Hypogonadism | chorioretinal degeneration | hypogonadism | SPINOCEREBELLAR ATAXIA | ataxia | GENETICS & HEREDITY | GONADOTROPIN-DEFICIENCY | K KM GENETICS & HEREDITY | FAMILY
Journal Article
Human Genetics, ISSN 0340-6717, 1999, Volume 104, Issue 1, pp. 73 - 76
Linkage analysis was performed on a large Dutch family with autosomal dominant retinitis pigmentosa. Linkage was found to the RP17 locus on chromosome 17q22,... 
RHODOPSIN GENE | LOCALIZATION | MUTATIONS | LOCUS | GENETICS & HEREDITY | Haplotypes | Humans | Retinitis Pigmentosa - genetics | Male | Genetic Markers | Chromosomes, Human, Pair 17 - genetics | Phenotype | Pedigree | Recombination, Genetic | Chromosome Mapping - methods | Female | Genes, Dominant - genetics | Genetic Linkage
Journal Article
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