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A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl...
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A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl...
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A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl...
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Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large Euro...
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Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large Euro...
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Related Subjects
Adult
Age of Onset
Aged
Bardet-Biedl Syndrome
Chromatography
DNA Mutational Analysis
Denmark
Female
Founder Effect
Fundus Oculi
Genetic Predisposition to Disease
Heterozygote
High Pressure Liquid
Homozygote
Humans
Male
Middle Aged
Original articles
Prevalence
Protein Isoforms
Proteins
Radboudumc 15: Urological cancers RIHS: Radboud Institute for Health Sciences
Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
Retina
Reverse Transcriptase Polymerase Chain Reaction
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