Works matching IS 03406717 AND DT 2005 AND VI 116 AND IP 4
Results: 11
Aubrey Milunsky (Ed): Genetic disorders and the fetus. Diagnosis, prevention and treatment (fifth edition). The Johns Hopkins University Press (2004), ISBN 0-8018-7928-0, hardcover, £160.50.
- Published in:
- 2005
- By:
- Publication type:
- Book Review
Methylenetetrahydrofolate reductase (MTHFR) and susceptibility for (pre)neoplastic cervical disease.
- Published in:
- Human Genetics, 2005, v. 116, n. 4, p. 247, doi. 10.1007/s00439-004-1233-4
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- Publication type:
- Article
Signature of recent historical events in the European Y-chromosomal STR haplotype distribution.
- Published in:
- Human Genetics, 2005, v. 116, n. 4, p. 279, doi. 10.1007/s00439-004-1201-z
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- Publication type:
- Article
Molecular distinction between true centric fission and pericentric duplication-fission.
- Published in:
- Human Genetics, 2005, v. 116, n. 4, p. 300, doi. 10.1007/s00439-004-1209-4
- By:
- Publication type:
- Article
Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology.
- Published in:
- Human Genetics, 2005, v. 116, n. 4, p. 255, doi. 10.1007/s00439-004-1236-1
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- Publication type:
- Article
Association of Ala72Ser polymorphism with COMT enzyme activity and the risk of schizophrenia in Koreans.
- Published in:
- Human Genetics, 2005, v. 116, n. 4, p. 319, doi. 10.1007/s00439-004-1239-y
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- Publication type:
- Article
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
- Published in:
- Human Genetics, 2005, v. 116, n. 4, p. 292, doi. 10.1007/s00439-004-1227-2
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- Publication type:
- Article
Oculopharyngeal muscular dystrophy (OPMD): analysis of thePABPN1gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism.
- Published in:
- Human Genetics, 2005, v. 116, n. 4, p. 267, doi. 10.1007/s00439-004-1235-2
- By:
- Publication type:
- Article
Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments.
- Published in:
- Human Genetics, 2005, v. 116, n. 4, p. 262, doi. 10.1007/s00439-004-1237-0
- By:
- Publication type:
- Article
A genomewide scan of male sexual orientation.
- Published in:
- Human Genetics, 2005, v. 116, n. 4, p. 272, doi. 10.1007/s00439-004-1241-4
- By:
- Publication type:
- Article
Non-recombining chromosome Y haplogroups and centromericHindIII RFLP in relation to blood pressure in 2,743 middle-aged Caucasian men from the UK.
- Published in:
- Human Genetics, 2005, v. 116, n. 4, p. 311, doi. 10.1007/s00439-004-1221-8
- By:
- Publication type:
- Article