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Circulation research, ISSN 0009-7330, 2012, Volume 110, Issue 12, pp. 1564 - 1574
Journal Article
Methods in Molecular Biology, ISSN 1064-3745, 2016, Volume 1454, pp. 15 - 33
A growing number of studies have used new generation technologies to characterize the protein constituents of cilia and centrosomes. This has led to the... 
DLEC1 | NPHP4 | TRAPPC8 | ASH domain | TRAPPC13 | Centrosome | Cilia | Cell Line | Gene Expression | Genetic Association Studies | Humans | Blotting, Western | Cilia - metabolism | Centrosome - metabolism | Animals | Transfection | Cloning, Molecular | Protein Domains | Microscopy, Fluorescence | DNA, Complementary | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 03/2008, Volume 29, Issue 3, pp. 418 - 426
Journal Article
Journal Article
Animal Genetics, ISSN 0268-9146, 08/2009, Volume 40, Issue 4, pp. 572 - 574
Summary Cone-rod dystrophy in the standard wire-haired dachshund (SWHD) is inherited as a simple autosomal recessive trait and the recently discovered mutation... 
age of mutation | cone-rod dystrophy | NPHP4 | standard wire-haired dachshund
Journal Article
Human Mutation, ISSN 1059-7794, 04/2005, Volume 25, Issue 4, pp. 411 - 411
Nephronophthisis (NPH), a recessive cystic kidney disease, is the most frequent genetic cause for end‐stage renal disease in the first two decades of life.... 
Senior‐Løken syndrome | NPHP4 | nephronophthisis | Cogan syndrome | mutational analysis | Proteins - physiology | Exons | Humans | Kidney Diseases - genetics | Syndrome | Proteins - genetics | DNA Mutational Analysis | Adolescent | Adult | Heterozygote | Mutation | Child | Kidney Diseases - metabolism | Index Medicus
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 03/2014, Volume 2, Issue 2, pp. 124 - 133
Bardet–Biedl syndrome ( BBS ) is a model ciliopathy characterized by a wide range of clinical variability. The heterogeneity of this condition is reflected in... 
intrafamilial variability | Bardet–Biedl Syndrome | MKKS | NPHP4 | NGS | Biedl Syndrome | Bardet | Intrafamilial variability | Mutation | Original
Journal Article
Veterinary Ophthalmology, ISSN 1463-5216, 01/2014, Volume 17, Issue 1, pp. 76 - 78
Journal Article
Turkish Journal of Pediatrics, ISSN 0041-4301, 2014, Volume 56, Issue 4, pp. 423 - 426
Journal Article
Journal Article
Journal of Genetics, ISSN 0022-1333, 8/2005, Volume 84, Issue 2, pp. 131 - 136
Genetic polymorphisms associated with structural changes of their gene product are important in terms of their potential relation with diseases. Therefore, in... 
Life Sciences | Life Sciences, general | Microbial Genetics and Genomics | TMPRSS4 | NPHP4 | Evolutionary Biology | Splice-site | genetic polymorphism | ORCTL4 | Plant Genetics & Genomics | Animal Genetics and Genomics | Gene expression | Ribonucleic acid--RNA | Proteases | Polymorphism
Journal Article
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