Works matching IS 10184813 AND DT 2009 AND VI 17 AND IP 9
Results: 17
Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4).
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1171, doi. 10.1038/ejhg.2008.267
- By:
- Publication type:
- Article
Direct to consumer genetic tests.
- Published in:
- 2009
- By:
- Publication type:
- Correction Notice
16p subtelomeric duplication: a clinically recognizable syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1135, doi. 10.1038/ejhg.2009.14
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- Publication type:
- Article
Assessment of transmission distortion on chromosome 6p in healthy individuals using tagSNPs.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1182, doi. 10.1038/ejhg.2009.16
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- Publication type:
- Article
Does δ-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1148, doi. 10.1038/ejhg.2009.17
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- Publication type:
- Article
Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1112, doi. 10.1038/ejhg.2009.18
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- Publication type:
- Article
Segregation analysis in a family at risk for the Maroteaux–Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1160, doi. 10.1038/ejhg.2009.19
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- Publication type:
- Article
Autosomal recessive cutis laxa syndrome revisited.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1099, doi. 10.1038/ejhg.2009.22
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- Publication type:
- Article
Multilocus analysis of age-related macular degeneration.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1190, doi. 10.1038/ejhg.2009.23
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- Publication type:
- Article
Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1200, doi. 10.1038/ejhg.2009.24
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- Publication type:
- Article
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1141, doi. 10.1038/ejhg.2009.27
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- Publication type:
- Article
Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1165, doi. 10.1038/ejhg.2009.28
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- Publication type:
- Article
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1154, doi. 10.1038/ejhg.2009.29
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- Publication type:
- Article
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1121, doi. 10.1038/ejhg.2009.36
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- Publication type:
- Article
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1129, doi. 10.1038/ejhg.2009.37
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- Publication type:
- Article
Lessons from cutis laxa syndromes: wrinkles due to improper reloading of the extracellular matrix?
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1097, doi. 10.1038/ejhg.2009.59
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- Publication type:
- Article
Direct to consumer genetic tests.
- Published in:
- 2009
- By:
- Publication type:
- Letter