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LRRK2 P755L variant in sporadic Parkinson's disease.

Journal of human genetics, 2008, Vol.53(11-12), pp.1012-1015 [Peer Reviewed Journal]

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A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia

Journal of Human Genetics, 2008, Vol.53(10), pp.894-898 [Peer Reviewed Journal]

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The SCARB1 gene is associated with lipid response to dietary and pharmacological interventions

Journal of Human Genetics, 2008, Vol.53(8), pp.709-717 [Peer Reviewed Journal]

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Association of genetic variations of genes encoding thrombospondin, type 1, domain-containing 4 and 7A with low bone mineral density in Japanese women with osteoporosis.

Journal of human genetics, 2008, Vol.53(8), pp.694-697 [Peer Reviewed Journal]

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Association study to evaluate the serotonin transporter and apolipoprotein E genes in frontotemporal lobar degeneration in Italy

Journal of Human Genetics, 2008, Vol.53(11-12), pp.1029-1033 [Peer Reviewed Journal]

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Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.

Journal of human genetics, 2008, Vol.53(8), pp.681-687 [Peer Reviewed Journal]

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The C.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease)

Journal of Human Genetics, 2008, Vol.53(10), pp.947-949 [Peer Reviewed Journal]

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Paternal transmission and slow elimination of mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients.

Journal of human genetics, 2008, Vol.53(1), pp.10-17 [Peer Reviewed Journal]

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A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia

Journal of Human Genetics, 2008, Vol.53(8), pp.764-768 [Peer Reviewed Journal]

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