Works matching IS 10184813 AND DT 2007 AND VI 15 AND IP 1
Results: 20
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 3, doi. 10.1038/sj.ejhg.5201654
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Vasoactive intestinal peptide gene alterations in patients with idiopathic pulmonary arterial hypertension.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 18, doi. 10.1038/sj.ejhg.5201711
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A recent genetic link between Sami and the Volga-Ural region of Russia.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 115, doi. 10.1038/sj.ejhg.5201712
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Molecular genetic analysis of the human dihydrofolate reductase gene: relation with plasma total homocysteine, serum and red blood cell folate levels.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 103, doi. 10.1038/sj.ejhg.5201713
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X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 68, doi. 10.1038/sj.ejhg.5201714
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The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li–Fraumeni syndrome and related phenotypes.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 110, doi. 10.1038/sj.ejhg.5201715
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Changing rates of genetic subtypes of Prader–Willi syndrome in the UK.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 127, doi. 10.1038/sj.ejhg.5201716
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A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 29, doi. 10.1038/sj.ejhg.5201717
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Towards mapping phenotypical traits in 18p− syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 35, doi. 10.1038/sj.ejhg.5201718
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Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 76, doi. 10.1038/sj.ejhg.5201719
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Novel deletion variants of 9q13–q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 45, doi. 10.1038/sj.ejhg.5201720
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Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 81, doi. 10.1038/sj.ejhg.5201721
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Mutation screening of BMP4, BMP7, HOXA4 and HOXB6 genes in Chinese patients with hypospadias.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 23, doi. 10.1038/sj.ejhg.5201722
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Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 88, doi. 10.1038/sj.ejhg.5201724
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Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams–Beuren locus.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 62, doi. 10.1038/sj.ejhg.5201730
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Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 121, doi. 10.1038/sj.ejhg.5201726
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Implication of abnormal epigenetic patterns for human diseases.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 10, doi. 10.1038/sj.ejhg.5201727
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Diagnostics: Genomic copy number analysis in mental retardation: finding the needles in the haystack.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 1, doi. 10.1038/sj.ejhg.5201728
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A genome-wide scan for naevus count: linkage to CDKN2A and to other chromosome regions.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 94, doi. 10.1038/sj.ejhg.5201729
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Rapid and reliable genotyping of polymorphic loci modifying correct splicing of CFTR pre-mRNA using mass spectrometry.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 53, doi. 10.1038/sj.ejhg.5201725
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