Found: 21
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HotSpots - An unusual ataxia.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 2, p. 113, doi. 10.1034/j.1399-0004.1999.5602022.x
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- Publication type:
- Article
Genetic aspects of population policy.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 2, p. 105, doi. 10.1034/j.1399-0004.1999.560201.x
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- Publication type:
- Article
HotSpots - Insufficient death: autoimmune lymphoproliferative syndrome.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 2, p. 110, doi. 10.1034/j.1399-0004.1999.560202.x
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- Publication type:
- Article
Genetic landmarks through philately – Kabuki theater and Kabuki syndrome.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 2, p. 116, doi. 10.1034/j.1399-0004.1999.560203.x
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- Publication type:
- Article
HotSpots - Cutting it close: new insights into presenilin-1 function.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 2, p. 112, doi. 10.1034/j.1399-0004.1999.5602021.x
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- Publication type:
- Article
Genetic counselling in multiple sclerosis: risks to sibs and children of affected individuals.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 2, p. 118, doi. 10.1034/j.1399-0004.1999.560204.x
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- Publication type:
- Article
Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 2, p. 123, doi. 10.1034/j.1399-0004.1999.560205.x
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- Publication type:
- Article
FISH analysis with locus-specific probes in sperm from two translocation carrier men.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 2, p. 129, doi. 10.1034/j.1399-0004.1999.560206.x
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- Publication type:
- Article
STK11/LKB1 germline mutations are not identified in most Peutz–Jeghers syndrome patients.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 2, p. 136, doi. 10.1034/j.1399-0004.1999.560207.x
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- Publication type:
- Article
Possible interaction of genotypes at cystathionine β-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 2, p. 142, doi. 10.1034/j.1399-0004.1999.560208.x
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- Publication type:
- Article
Short rib-polydactyly syndrome: more evidence of a continuous spectrum.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 2, p. 145, doi. 10.1034/j.1399-0004.1999.560209.x
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- Publication type:
- Article
Aicardi–Goutières syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?
- Published in:
- Clinical Genetics, 1999, v. 56, n. 2, p. 149, doi. 10.1034/j.1399-0004.1999.560210.x
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- Publication type:
- Article
Kabuki syndrome: description of dental findings in 8 patients.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 2, p. 154, doi. 10.1034/j.1399-0004.1999.560211.x
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- Publication type:
- Article
Physical activity modulates the effect of a lipoprotein lipase mutation (D9N) on plasma lipids and lipoproteins.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 2, p. 158, doi. 10.1034/j.1399-0004.1999.560212.x
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- Publication type:
- Article
Serum total IgE levels and CD14 on chromosome 5q31.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 2, p. 164, doi. 10.1034/j.1399-0004.1999.560213.x
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- Publication type:
- Article
Association between CAG repeat number in the androgen receptor and male infertility in a Belgian study.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 2, p. 166, doi. 10.1034/j.1399-0004.1999.560214.x
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- Publication type:
- Article
High frequency of type 1 GM1 gangliosidosis in southern Brazil.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 2, p. 168, doi. 10.1034/j.1399-0004.1999.560215.x
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- Publication type:
- Article
Scalp-ear-nipple (Finlay–Marks) syndrome: a familial case with renal involvement.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 2, p. 170, doi. 10.1034/j.1399-0004.1999.560216.x
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- Publication type:
- Article
A Japanese patient homozygous for the H1085R mutation in the CFTR gene presents with a severe form of cystic fibrosis.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 2, p. 173, doi. 10.1034/j.1399-0004.1999.560217.x
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- Publication type:
- Article
Correspondence.
- Published in:
- 1999
- By:
- Publication type:
- Letter
Correspondence.
- Published in:
- 1999
- Publication type:
- Letter