Works matching IS 10184813 AND DT 2009 AND VI 17 AND IP 1
Results: 20
Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 91, doi. 10.1038/ejhg.2008.120
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Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 37, doi. 10.1038/ejhg.2008.133
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Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 51, doi. 10.1038/ejhg.2008.136
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LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 85, doi. 10.1038/ejhg.2008.138
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Dual-allele dipstick assay for genotyping single nucleotide polymorphisms by primer extension reaction.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 105, doi. 10.1038/ejhg.2008.139
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Variation near complement factor I is associated with risk of advanced AMD.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 100, doi. 10.1038/ejhg.2008.140
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Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 14, doi. 10.1038/ejhg.2008.141
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Problems assessing uptake of Huntington disease predictive testing and a proposed solution.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 66, doi. 10.1038/ejhg.2008.142
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An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 80, doi. 10.1038/ejhg.2008.143
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Prader–Willi syndrome.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 3, doi. 10.1038/ejhg.2008.165
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Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 71, doi. 10.1038/ejhg.2008.145
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Re-assigning the DFNB33 locus to chromosome 10p11.23–q21.1.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 122, doi. 10.1038/ejhg.2008.155
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An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 125, doi. 10.1038/ejhg.2008.159
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Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 112, doi. 10.1038/ejhg.2008.161
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Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 44, doi. 10.1038/ejhg.2008.144
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Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 129, doi. 10.1038/ejhg.2008.168
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Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 133, doi. 10.1038/ejhg.2008.174
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Low frequency of imprinting defects in ICSI children born small for gestational age.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 22, doi. 10.1038/ejhg.2008.177
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Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 30, doi. 10.1038/ejhg.2008.183
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Imprinting, Small Babies and Assisted Reproduction: Genomic imprinting, small babies and assisted reproduction.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 1, doi. 10.1038/ejhg.2008.199
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