Works matching IS 00099163 AND DT 2004 AND VI 65 AND IP 2
Results: 16
Letter to the Editor Germline-sequence variants S836S and L769L in the RE arranged during Transfection (RET) proto-oncogene are not associated with predisposition to sporadic medullary carcinoma in the French population.
- Published in:
- 2004
- By:
- Publication type:
- Letter
Short Report Novel mutations in the CHST6 gene causing macular corneal dystrophy.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 2, p. 120, doi. 10.1111/j.0009-9163.2004.00191.x
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- Publication type:
- Article
Genetic variation at the hormone sensitive lipase: gender-specific association with plasma lipid and glucose concentrations.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 2, p. 93, doi. 10.1111/j.0009-9163.2004.00196.x
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- Publication type:
- Article
Skeletal phenotype in patients with Shwachman–Diamond syndrome and mutations in SBDS.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 2, p. 101, doi. 10.1111/j.0009-9163.2004.00198.x
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- Publication type:
- Article
Short Report The influence of APOAV polymorphisms (T-1131>C and S19>W) on plasma triglyceride levels and risk of myocardial infarction.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 2, p. 126, doi. 10.1111/j.0009-9163.2004.00199.x
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- Publication type:
- Article
Hotspot Hardly a stroke of luck! (Uncovering a gene for stroke is hard work).
- Published in:
- 2004
- By:
- Publication type:
- Other
Short Report Real-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast–ovarian cancer families.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 2, p. 131, doi. 10.1111/j.0009-9163.2004.00200.x
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- Publication type:
- Article
Letter to the Editor Bilateral complete radioulnar synostosis associated with ectrodactyly and sensorineural hearing loss: a variant of SHFM1.
- Published in:
- 2004
- By:
- Publication type:
- Letter
Letter to the Editor Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene.
- Published in:
- 2004
- By:
- Publication type:
- Letter
Letter to the Editor Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method.
- Published in:
- 2004
- By:
- Publication type:
- Letter
Hotspot RNA-mediated neurodegeneration from a different point of view: rCGG in the Drosophila eye.
- Published in:
- 2004
- By:
- Publication type:
- Other
Short Report The locus responsible for horizontal gaze palsy/progressive scoliosis and brainstem hypoplasia is refined to a 9-cM region on chromosome 11q23.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 2, p. 137, doi. 10.1111/j.0009-9163.2004.00201.x
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- Publication type:
- Article
Hotspot A putative E3 ubiquitin ligase is deficient in progressive myoclonus epilepsy.
- Published in:
- 2004
- By:
- Publication type:
- Other
A model for disclosing the first trimester part of an integrated Down's syndrome screening test.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 2, p. 113, doi. 10.1111/j.0009-9163.2004.00209.x
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- Publication type:
- Article
Short Report Sanfilippo B syndrome: molecular defects in Greek patients.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 2, p. 143, doi. 10.1111/j.0009-9163.2004.00210.x
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- Publication type:
- Article
Mini Review Gaucher's disease: a paradigm for interventional genetics.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 2, p. 77, doi. 10.1111/j.0009-9163.2004.00217.x
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- Publication type:
- Article