Works matching IS 10184813 AND DT 2010 AND VI 18 AND IP 2
Results: 25
Caveolinopathies: from the biology of caveolin-3 to human diseases.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 137, doi. 10.1038/ejhg.2009.103
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- Publication type:
- Article
An integrated phenomic approach to multivariate allelic association.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 233, doi. 10.1038/ejhg.2009.133
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- Publication type:
- Article
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 157, doi. 10.1038/ejhg.2009.139
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- Publication type:
- Article
The CFTR frameshift mutation 3905insT and its effect at transcript and protein level.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 212, doi. 10.1038/ejhg.2009.140
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- Publication type:
- Article
Association of the TGF-β receptor genes with abdominal aortic aneurysm.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 240, doi. 10.1038/ejhg.2009.141
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- Publication type:
- Article
A genome scan in affected sib-pairs with familial vesicoureteral reflux identifies a locus on chromosome 5.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 245, doi. 10.1038/ejhg.2009.142
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- Publication type:
- Article
Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 194, doi. 10.1038/ejhg.2009.143
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- Publication type:
- Article
Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 200, doi. 10.1038/ejhg.2009.144
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- Article
Obtaining insurance after DNA diagnostics: a survey among hypertrophic cardiomyopathy mutation carriers.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 251, doi. 10.1038/ejhg.2009.145
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- Article
Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder.
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- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 206, doi. 10.1038/ejhg.2009.148
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- Article
Migrations are of all times.
- Published in:
- 2010
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- Publication type:
- Book Review
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 178, doi. 10.1038/ejhg.2009.154
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- Publication type:
- Article
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 163, doi. 10.1038/ejhg.2009.152
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- Publication type:
- Article
Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 186, doi. 10.1038/ejhg.2009.151
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- Publication type:
- Article
Reply to Camprubí et al.
- Published in:
- 2010
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- Publication type:
- Letter
Preliminary evidence of a noncausal association between the X-chromosome inactivation pattern and thyroid autoimmunity: a twin study.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 254, doi. 10.1038/ejhg.2009.156
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- Publication type:
- Article
Study of smell and reproductive organs in a mouse model for CHARGE syndrome.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 171, doi. 10.1038/ejhg.2009.158
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- Publication type:
- Article
Progress in therapeutic antisense applications for neuromuscular disorders.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 146, doi. 10.1038/ejhg.2009.160
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- Publication type:
- Article
Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 227, doi. 10.1038/ejhg.2009.162
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- Publication type:
- Article
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 258, doi. 10.1038/ejhg.2009.164
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- Publication type:
- Article
Design and evaluation of a panel of single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease.
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- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 218, doi. 10.1038/ejhg.2009.165
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- Publication type:
- Article
Prader–Willi and Angelman syndromes: genetic counseling.
- Published in:
- 2010
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- Publication type:
- Letter
Long time no see: the Type and Contre-type concept.
- Published in:
- 2010
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- Publication type:
- Opinion
Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
- Published in:
- 2010
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- Publication type:
- Correction Notice
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.
- Published in:
- 2010
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- Publication type:
- Correction Notice