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Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population

Journal of Human Genetics, 2008, Vol.53(11-12), pp.1022-1028 [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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Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease

Journal of Human Genetics, 2008, Vol.53(6), pp.529-533 [Peer Reviewed Journal]

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NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1.

Journal of human genetics, 2008, Vol.53(10), pp.936-940 [Peer Reviewed Journal]

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SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.

Journal of human genetics, 2008, Vol.53(8), pp.769-774 [Peer Reviewed Journal]

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Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant

Journal of Human Genetics, 2008, Vol.53(6), pp.573-577 [Peer Reviewed Journal]

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Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.

Journal of human genetics, 2008, Vol.53(6), pp.565-572 [Peer Reviewed Journal]

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Variation of the oxytocin/neurophysin I (OXT) gene in four human populations.

Journal of human genetics, 2008, Vol.53(7), pp.637-643 [Peer Reviewed Journal]

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No association between the oligodendrocyte-related gene PLP1 and schizophrenia in the Japanese population

Journal of Human Genetics, 2008, Vol.53(9), pp.863-866 [Peer Reviewed Journal]

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Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7; 9)(q21; p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene

Journal of Human Genetics, 2008, Vol.53(10), pp.876-885 [Peer Reviewed Journal]

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