Found: 12
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Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 6, p. 513, doi. 10.1111/j.1399-0004.2008.01039.x
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- Publication type:
- Article
A 2.1 Mb deletion adjacent but distal to a 14q21q23 paracentric inversion in a family with spherocytosis and severe learning difficulties.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 6, p. 553, doi. 10.1111/j.1399-0004.2008.01072.x
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- Publication type:
- Article
Age-dependent risks in genetic counseling for spinocerebellar ataxia type 2.
- Published in:
- 2008
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- Publication type:
- Letter
Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 6, p. 539, doi. 10.1111/j.1399-0004.2008.01042.x
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- Publication type:
- Article
Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 6, p. 531, doi. 10.1111/j.1399-0004.2008.01086.x
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- Publication type:
- Article
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 6, p. 560, doi. 10.1111/j.1399-0004.2008.01050.x
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- Publication type:
- Article
Anderson’s disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 6, p. 546, doi. 10.1111/j.1399-0004.2008.01069.x
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- Publication type:
- Article
A thorough MECP2 mutation analysis.
- Published in:
- 2008
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- Publication type:
- Letter
MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 6, p. 522, doi. 10.1111/j.1399-0004.2008.01051.x
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- Publication type:
- Article
Attitudes of couples identified through screening as carriers of Gaucher disease type 1.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 6, p. 566, doi. 10.1111/j.1399-0004.2008.01063.x
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- Publication type:
- Article
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 6, p. 502, doi. 10.1111/j.1399-0004.2008.01068.x
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- Publication type:
- Article
The Genetics of Birth Timing: Insights into a Fundamental Component of Human Development.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 6, p. 493, doi. 10.1111/j.1399-0004.2008.01124.x
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- Publication type:
- Article