Works matching IS 10184813 AND DT 2012 AND VI 20 AND IP 9
Results: 21
Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 999, doi. 10.1038/ejhg.2012.42
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- Publication type:
- Article
Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 933, doi. 10.1038/ejhg.2012.36
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- Publication type:
- Article
A genome-wide search for linkage to allergic rhinitis in Danish sib-pair families.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 965, doi. 10.1038/ejhg.2012.46
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- Publication type:
- Article
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 984, doi. 10.1038/ejhg.2012.39
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- Publication type:
- Article
Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 956, doi. 10.1038/ejhg.2012.22
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- Publication type:
- Article
A family-based association test to detect gene-gene interactions in the presence of linkage.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 973, doi. 10.1038/ejhg.2012.45
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- Publication type:
- Article
The phenotype associated with a large deletion on MECP2.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 921, doi. 10.1038/ejhg.2012.34
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- Publication type:
- Article
Expression QTL analysis of top loci from GWAS meta-analysis highlights additional schizophrenia candidate genes.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 1004, doi. 10.1038/ejhg.2012.38
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- Publication type:
- Article
Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 990, doi. 10.1038/ejhg.2012.29
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- Publication type:
- Article
Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 1010, doi. 10.1038/ejhg.2012.122
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- Publication type:
- Article
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 917, doi. 10.1038/ejhg.2012.35
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- Publication type:
- Article
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 995, doi. 10.1038/ejhg.2012.21
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- Publication type:
- Article
Methylome-wide comparison of human genomic DNA extracted from whole blood and from EBV-transformed lymphocyte cell lines.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 953, doi. 10.1038/ejhg.2012.33
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- Publication type:
- Article
The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 911, doi. 10.1038/ejhg.2012.56
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- Publication type:
- Article
SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 938, doi. 10.1038/ejhg.2012.27
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- Publication type:
- Article
A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 986, doi. 10.1038/ejhg.2012.43
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- Publication type:
- Article
Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 945, doi. 10.1038/ejhg.2012.40
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- Publication type:
- Article
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 1010, doi. 10.1038/ejhg.2012.114
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- Publication type:
- Article
Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 928, doi. 10.1038/ejhg.2012.26
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- Publication type:
- Article
Spontaneous disclosure of BRCA1/2 genetic test results to employers: a French prospective study.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 981, doi. 10.1038/ejhg.2012.37
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- Publication type:
- Article
All you ever wanted to know about teratogens and more.
- Published in:
- 2012
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- Publication type:
- Book Review