Kabuki syndrome: a review.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 3, p. 209, doi. 10.1111/j.1399-0004.2004.00348.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2005 AND VI 67 AND IP 3
Results: 14
1
2
Hedgehog signaling and congenital malformations.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 3, p. 193, doi. 10.1111/j.1399-0004.2004.00360.x
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- Publication type:
- Article
3
Detection of maternal uniparental disomy at the two imprinted genes on chromosome 7,GRB10andPEG1/MEST, in a Silver–Russell syndrome patient using methylation-specific PCR assays.
- Published in:
- 2005
- By:
- Publication type:
- Letter
4
Germline mosaicism in Rett syndrome identified by prenatal diagnosis.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 3, p. 258, doi. 10.1111/j.1399-0004.2005.00397.x
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- Publication type:
- Article
5
Identification of novelSLC3A1gene mutations in Spanish cystinuria families and association with clinical phenotypes.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 3, p. 240, doi. 10.1111/j.1399-0004.2004.00393.x
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- Publication type:
- Article
6
Mitochondrial DNA mutations in a patient with sex reversal and clinical features consistent with Fraser syndrome.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 3, p. 252, doi. 10.1111/j.1399-0004.2004.00394.x
- By:
- Publication type:
- Article
7
Cardiac involvement in Emery–Dreifuss muscular dystrophy.
- Published in:
- 2005
- By:
- Publication type:
- Other
8
COH1analysis and linkage study in two Japanese families with Cohen syndrome.
- Published in:
- 2005
- By:
- Publication type:
- Letter
9
Insulin resistance and obesity-related factors in Prader–Willi syndrome: Comparison with obese subjects.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 3, p. 230, doi. 10.1111/j.1399-0004.2004.00392.x
- By:
- Publication type:
- Article
10
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 3, p. 261, doi. 10.1111/j.1399-0004.2004.00402.x
- By:
- Publication type:
- Article
11
Beating congenital heart defects with embryonic stem cells.
- Published in:
- 2005
- By:
- Publication type:
- Other
12
A common mutation inIVDassociated with asymptomatic isovaleric acidemia: implications for newborn screening.
- Published in:
- 2005
- By:
- Publication type:
- Other
13
Inclusions to the rescue? Neuroprotective role for huntingtin inclusions in HD.
- Published in:
- 2005
- By:
- Publication type:
- Other
14
Corrigendum.
- Published in:
- 2005
- Publication type:
- Correction Notice