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Scientific Reports, ISSN 2045-2322, 03/2017, Volume 7, Issue 1, pp. 43614 - 43614
Gout is a common arthritis resulting from increased serum urate, and many loci have been identified that are associated with serum urate and gout. However,... 
SLC2A9 | POPULATION | HYPERURICEMIA | MANAGEMENT | VARIANTS | MULTIDISCIPLINARY SCIENCES | COTRANSPORTER | RISK | ARTHRITIS | URIC-ACID CONCENTRATIONS | GENOME-WIDE ASSOCIATION | Hyperuricemia | Pathogenesis | Genes | Gout | Arthritis | Uric acid | Lead poisoning | Index Medicus
Journal Article
2005, ISBN 0521821851, xi, 243 p., [2] p. of plates
Velo-Cardio-Facial Syndrome (VCFS) is a genetic disorder caused by the deletion of part of chromosome 22. It occurs in approximately one in 4000 births and... 
Genetic disorders | Abnormalities, Multiple | genetics
Book
The American Journal of Human Genetics, ISSN 0002-9297, 05/2014, Volume 94, Issue 5, pp. 734 - 744
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2012, Volume 44, Issue 4, pp. 376 - 378
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2009, Volume 41, Issue 4, pp. 465 - 472
Journal Article
Science, ISSN 0036-8075, 4/2010, Volume 328, Issue 5978, pp. 636 - 639
We analyzed the whole-genome sequences of a family of four, consisting of two siblings and their parents. Family-based sequencing allowed us to delineate... 
Genetic inheritance | Inheritance patterns | Genes | REPORTS | Parents | Genomes | Children | Genetic mutation | Sequencing | Chromosomes | Siblings | NUCLEOTIDE | MIDDLE AWASH | RECOMBINATION | RATES | PLEISTOCENE | MULTIDISCIPLINARY SCIENCES | HUMANS | ETHIOPIA | Limb Deformities, Congenital - genetics | Crossing Over, Genetic | Genetic Association Studies | Humans | Axonemal Dyneins - genetics | Nuclear Family | Male | Genes, Recessive | Sequence Analysis, DNA | Syndrome | Inheritance Patterns | Mandibulofacial Dysostosis - genetics | Algorithms | Genes, Dominant | Pedigree | Alleles | Female | Oxidoreductases Acting on CH-CH Group Donors - genetics | Polymorphism, Single Nucleotide | Mutation | Genome, Human | Abnormalities, Multiple - genetics | Ciliary Motility Disorders - genetics | Heredity | Genetic aspects | Research | Nucleotide sequencing | Brothers and sisters | Identification and classification | Methods | Multiple birth | Families & family life | Genetic disorders | Genomics | Polymorphism | Index Medicus | crossover | haplotype | inheritance state | DNAH5 | inheritance analysis | de novo mutations | haploidentical block | rare genetic disease | HMM | DHODH | whole genome sequencing | haploidentity | KIAA0556 | inheritance vector | recombination hotspot | Miller syndrome | POADS | recessive models | CES1
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2012, Volume 90, Issue 1, pp. 119 - 124
Journal Article
Genetics in Medicine, ISSN 1098-3600, 07/2011, Volume 13, Issue 7, pp. 680 - 685
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2009, Volume 106, Issue 14, pp. 5842 - 5847
Journal Article