Works matching IS 10184813 AND DT 2009 AND VI 17 AND IP 5
Results: 22
GAB2 is not associated with late-onset Alzheimer's disease in Japanese.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 682, doi. 10.1038/ejhg.2008.181
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- Article
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.
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- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 598, doi. 10.1038/ejhg.2008.193
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- Article
The expression of type III hyperlipoproteinemia: involvement of lipolysis genes.
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- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 620, doi. 10.1038/ejhg.2008.202
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- Article
A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.
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- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 565, doi. 10.1038/ejhg.2008.204
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- Article
Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.
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- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 573, doi. 10.1038/ejhg.2008.220
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- Article
Unraveling hyperlipidemia type III (dysbetalipoproteinemia), slowly.
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- 2009
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- Publication type:
- Opinion
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
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- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 554, doi. 10.1038/ejhg.2008.231
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- Article
The Etruscan timeline: a recent Anatolian connection.
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- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 693, doi. 10.1038/ejhg.2008.224
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- Article
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
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- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 656, doi. 10.1038/ejhg.2008.226
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- Article
Dystrophia myotonia: why focus on foci?
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- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 543, doi. 10.1038/ejhg.2008.227
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- Article
A 15q13.3 microdeletion segregating with autism.
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- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 687, doi. 10.1038/ejhg.2008.228
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- Article
Breakpoint characterization of a novel ∼59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance.
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- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 651, doi. 10.1038/ejhg.2008.223
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- Article
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome.
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- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 582, doi. 10.1038/ejhg.2008.232
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- Article
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome.
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- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 611, doi. 10.1038/ejhg.2008.233
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- Article
Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.
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- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 664, doi. 10.1038/ejhg.2008.234
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- Article
Significant evidence for linkage to chromosome 5q13 in a genome-wide scan for asthma in an extended pedigree resource.
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- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 636, doi. 10.1038/ejhg.2008.236
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- Article
Impact of inbreeding on fertility in a pre-industrial population.
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- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 673, doi. 10.1038/ejhg.2008.237
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- Publication type:
- Article
MTHFR 677 C>T and 1298 A>C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer.
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- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 629, doi. 10.1038/ejhg.2008.239
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- Article
Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly.
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- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 604, doi. 10.1038/ejhg.2008.240
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- Article
A targeted population carrier screening program for severe and frequent genetic diseases in Israel.
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- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 591, doi. 10.1038/ejhg.2008.241
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- Article
A composite-likelihood approach for identifying polymorphisms that are potentially directly associated with disease.
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- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 644, doi. 10.1038/ejhg.2008.242
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- Article
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
- Published in:
- 2009
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