Landmarks in genetics through philately: Down syndrome.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 4, p. 268, doi. 10.1034/j.1399-0004.2003.00080.x
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- Publication type:
- Article
Works matching IS 00099163 AND DT 2003 AND VI 63 AND IP 4
Results: 18
1
2
Failure of prenatal diagnosis of diploid–triploid mosaicism after amniocentesis.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 4, p. 328, doi. 10.1034/j.1399-0004.2003.00062.x
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- Publication type:
- Article
3
Detection of five new mutations in the APC gene using denaturing high-performance liquid chromatography.
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- Clinical Genetics, 2003, v. 63, n. 4, p. 325, doi. 10.1034/j.1399-0004.2003.00065.x
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- Publication type:
- Article
4
Nature's accounting: the gains, losses and human cost of duplicon-mediated genomic imbalance.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 4, p. 262, doi. 10.1034/j.1399-0004.2003.t01-1-00068.x
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- Publication type:
- Article
5
The complicity of segmental duplicity in human genetic disease.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 4, p. 262, doi. 10.1034/j.1399-0004.2003.00068.x
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- Publication type:
- Article
6
Skeletal dysplasias caused by a disruption of skeletal patterning and endochondral ossification.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 4, p. 241, doi. 10.1034/j.1399-0004.2003.00046.x
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- Publication type:
- Article
7
KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 4, p. 273, doi. 10.1034/j.1399-0004.2003.00048.x
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- Publication type:
- Article
8
Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 4, p. 308, doi. 10.1034/j.1399-0004.2003.00049.x
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- Publication type:
- Article
9
A submicroscopic deletion of 11p13 associated with the WAGR syndrome.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 4, p. 319, doi. 10.1034/j.1399-0004.2003.00051.x
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- Publication type:
- Article
10
Cerebro–oculo–facial–lymphatic syndrome.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 4, p. 291, doi. 10.1034/j.1399-0004.2003.00052.x
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- Publication type:
- Article
11
Analysis of Sanfilippo A gene mutations in a large pedigree.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 4, p. 314, doi. 10.1034/j.1399-0004.2003.00053.x
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- Publication type:
- Article
12
Genetic heterogeneity for a Nijmegen breakage-like syndrome.
- Published in:
- 2003
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- Publication type:
- Case Study
13
Tangier disease with unusual clinical manifestations.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 4, p. 323, doi. 10.1034/j.1399-0004.2003.00056.x
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- Publication type:
- Article
14
The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 4, p. 303, doi. 10.1034/j.1399-0004.2003.00058.x
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- Publication type:
- Article
15
Molecular characterization of a unique de novo 15q deletion associated with Prader–Willi syndrome and central visual impairment.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 4, p. 297, doi. 10.1034/j.1399-0004.2003.00059.x
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- Publication type:
- Article
16
Chromosome 22: a little chromosome that presents a larger understanding of genomic disorders.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 4, p. 264, doi. 10.1034/j.1399-0004.2003.t01-2-00068.x
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- Publication type:
- Article
17
Searching the vast array of genomic disorders.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 4, p. 266, doi. 10.1034/j.1399-0004.2003.t01-3-00068.x
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- Publication type:
- Article
18
The developing heart and congenital heart defects: a make or break situation.
- Published in:
- Clinical Genetics, 2003, v. 63, n. 4, p. 252, doi. 10.1034/j.1399-0004.2003.00066.x
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- Publication type:
- Article