Found: 16
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Genetic factors in non-syndromic congenital heart malformations.
- Published in:
- Clinical Genetics, 2010, v. 78, n. 2, p. 103, doi. 10.1111/j.1399-0004.2010.01435.x
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- Article
Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis.
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- Clinical Genetics, 2010, v. 78, n. 2, p. 169, doi. 10.1111/j.1399-0004.2009.01358.x
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- Article
Autosomal recessive LMNA mutation causing Restrictive Dermopathy.
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- Clinical Genetics, 2010, v. 78, n. 2, p. 199, doi. 10.1111/j.1399-0004.2010.01385.x
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- Article
Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China.
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- Clinical Genetics, 2010, v. 78, n. 2, p. 139, doi. 10.1111/j.1399-0004.2010.01430.x
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- Article
Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome.
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- Clinical Genetics, 2010, v. 78, n. 2, p. 186, doi. 10.1111/j.1399-0004.2009.01346.x
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- Article
Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients.
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- Clinical Genetics, 2010, v. 78, n. 2, p. 181, doi. 10.1111/j.1399-0004.2009.01359.x
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- Article
Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency onl-carnitine supplementation.
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- Clinical Genetics, 2010, v. 78, n. 2, p. 191, doi. 10.1111/j.1399-0004.2009.01368.x
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- Article
De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features.
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- Clinical Genetics, 2010, v. 78, n. 2, p. 175, doi. 10.1111/j.1399-0004.2010.01371.x
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- Article
Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2.
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- Clinical Genetics, 2010, v. 78, n. 2, p. 162, doi. 10.1111/j.1399-0004.2010.01373.x
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- Article
Delineation of 15q13.3 microdeletions.
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- Clinical Genetics, 2010, v. 78, n. 2, p. 149, doi. 10.1111/j.1399-0004.2010.01374.x
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- Article
Gaucher disease: frequency of the N370S mutation in the Greek population.
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- Clinical Genetics, 2010, v. 78, n. 2, p. 195, doi. 10.1111/j.1399-0004.2010.01381.x
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- Article
Osteoglophonic dysplasia: A ‘common’ mutation in a rare disease.
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- Clinical Genetics, 2010, v. 78, n. 2, p. 197, doi. 10.1111/j.1399-0004.2010.01382.x
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- Article
Exome sequencing: expanding the genetic testing toolbox.
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- Clinical Genetics, 2010, v. 78, n. 2, p. 132, doi. 10.1111/j.1399-0004.2010.01452_1.x
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- Article
Evaluation of phone-based genetic counselling in African American women using culturally tailored visual aids.
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- Clinical Genetics, 2010, v. 78, n. 2, p. 124, doi. 10.1111/j.1399-0004.2010.01466.x
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- Article
Don't change that (calcium) channel: mutations in the same calcium channel gene can cause multiple distinct phenotypes.
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- Clinical Genetics, 2010, v. 78, n. 2, p. 134, doi. 10.1111/j.1399-0004.2010.01452_2.x
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- Article
‘Kir’-ing thyrotoxic periodic paralysis.
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- Clinical Genetics, 2010, v. 78, n. 2, p. 136, doi. 10.1111/j.1399-0004.2010.01452_3.x
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- Article