Works matching IS 00099163 AND DT 2006 AND VI 69 AND IP 6
Results: 15
Craniofacial malformations: intrinsic vs extrinsic neural crest cell defects in Treacher Collins and 22q11 deletion syndromes.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 6, p. 471, doi. 10.1111/j.0009-9163.2006.00615.x
- By:
- Publication type:
- Article
Splicing generates a polycystin-2 variant with inverted topology.
- Published in:
- 2006
- By:
- Publication type:
- Other
Crigler–Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 6, p. 459, doi. 10.1111/j.1399-0004.2006.00619.x
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- Publication type:
- Article
Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 6, p. 518, doi. 10.1111/j.1399-0004.2006.00620.x
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- Publication type:
- Article
High-efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi-CE-SSCP) mutation screening of SCN5A: a rapid genetic approach to cardiac arrhythmia.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 6, p. 504, doi. 10.1111/j.1399-0004.2006.00621.x
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- Publication type:
- Article
Multiple primary malignancies in a patient with situs ambiguus.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 6, p. 512, doi. 10.1111/j.1399-0004.2006.00618.x
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- Publication type:
- Article
Insights into a new gene involved in cobalamin metabolism.
- Published in:
- 2006
- By:
- Publication type:
- Other
First evidence for a molecular link between Usher 1 and Usher 2 syndromes.
- Published in:
- 2006
- By:
- Publication type:
- Other
The personal experience of juvenile Huntington's disease: an interpretative phenomenological analysis of parents' accounts of the primary features of a rare genetic condition.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 6, p. 486, doi. 10.1111/j.1399-0004.2006.00624.x
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- Publication type:
- Article
Factors in decision making following genetic counseling for pre-natal diagnosis of de novo chromosomal rearrangements.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 6, p. 497, doi. 10.1111/j.1399-0004.2006.00625.x
- By:
- Publication type:
- Article
Digitisation of Clinical Genetics.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 6, p. i, doi. 10.1111/j.1399-0004.2006.announcement.x
- Publication type:
- Article
Author index.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 6, p. ii, doi. 10.1111/j.1399-0004.2006.0auth.x
- Publication type:
- Article
Subject index.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 6, p. v, doi. 10.1111/j.1399-0004.2006.00key.x
- Publication type:
- Article