Tricho-dento-osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 1, p. 35, doi. 10.1034/j.1399-0004.1999.550105.x
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- Publication type:
- Article
Works matching IS 00099163 AND DT 1999 AND VI 56 AND IP 1
Results: 18
1
2
HotSpots.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 1, p. 10, doi. 10.1034/j.1399-0004.1999.560102.x
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- Publication type:
- Article
3
Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.
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- Clinical Genetics, 1999, v. 56, n. 1, p. 1, doi. 10.1034/j.1399-0004.1999.560101.x
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- Publication type:
- Article
4
Molecular mechanisms controlling lung morphogenesis.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 1, p. 14, doi. 10.1034/j.1399-0004.1999.560103.x
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- Publication type:
- Article
5
Family physicians’ perspectives on genetics and the human genome project.
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- Clinical Genetics, 1999, v. 56, n. 1, p. 28, doi. 10.1034/j.1399-0004.1999.560104.x
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- Publication type:
- Article
6
Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 1, p. 51, doi. 10.1034/j.1399-0004.1999.560107.x
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- Publication type:
- Article
7
Cohen syndrome: evaluation of its cardiac, endocrine and radiological features.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 1, p. 41, doi. 10.1034/j.1399-0004.1999.560106.x
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- Publication type:
- Article
8
High frequency of tissue-specific mosaicism in Turner syndrome patients.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 1, p. 59, doi. 10.1034/j.1399-0004.1999.560108.x
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- Publication type:
- Article
9
Homozygosity for a novel DTDST mutation in a child with a ‘broad bone-platyspondylic’ variant of diastrophic dysplasia.
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- Clinical Genetics, 1999, v. 56, n. 1, p. 71, doi. 10.1034/j.1399-0004.1999.560110.x
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- Publication type:
- Article
10
Mucopolysaccharidosis type I: Characterization of novel mutations affecting α-l-iduronidase activity.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 1, p. 66, doi. 10.1034/j.1399-0004.1999.560109.x
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- Publication type:
- Article
11
Germline mosaicism in X-linked myotubular myopathy.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 1, p. 77, doi. 10.1034/j.1399-0004.1999.560111.x
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- Publication type:
- Article
12
A locus for autosomal recessive achromatopsia on human chromosome 8q.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 1, p. 82, doi. 10.1034/j.1399-0004.1999.560112.x
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- Publication type:
- Article
13
A de novo complex chromosomal rearrangement with nine breakpoints characterised by FISH in a boy with mild mental retardation, developmental delay, short stature and microcephaly.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 1, p. 86, doi. 10.1034/j.1399-0004.1999.560113.x
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- Publication type:
- Article
14
Infantile spasms in a patient with partial duplication of chromosome 2p.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 1, p. 93, doi. 10.1034/j.1399-0004.1999.560114.x
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- Publication type:
- Article
15
Distal arthrogryposis type IIB: probable autosomal recessive inheritance.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 1, p. 95, doi. 10.1034/j.1399-0004.1999.560115.x
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- Publication type:
- Article
16
Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 1, p. 100, doi. 10.1034/j.1399-0004.1999.560117.x
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- Publication type:
- Article
17
Screening for FMR1 mutations among the mentally retarded: prevalence of the fragile X syndrome in Spain.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 1, p. 98, doi. 10.1034/j.1399-0004.1999.560116.x
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- Publication type:
- Article
18
Triple aneuploidy in spontaneous abortions.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 1, p. 103, doi. 10.1034/j.1399-0004.1999.560118.x
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- Publication type:
- Article