A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 2, p. 162, doi. 10.1111/j.1399-0004.2012.01851.x
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- Publication type:
- Article
Works matching IS 00099163 AND DT 2013 AND VI 83 AND IP 2
Results: 15
1
2
Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 2, p. 118, doi. 10.1111/cge.12058
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- Article
3
Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.
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- Clinical Genetics, 2013, v. 83, n. 2, p. 135, doi. 10.1111/j.1399-0004.2012.01885.x
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- Article
4
Autosomal dominant amelogenesis imperfecta associated with ENAM frameshift mutation p.Asn36Ilefs56.
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- Clinical Genetics, 2013, v. 83, n. 2, p. 195, doi. 10.1111/j.1399-0004.2012.01887.x
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- Article
5
7q11.23 Microduplication: a recognizable phenotype.
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- Clinical Genetics, 2013, v. 83, n. 2, p. 155, doi. 10.1111/j.1399-0004.2012.01862.x
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- Publication type:
- Article
6
Neurodevelopmental consequences of maternal distress: what do we really know?
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- Clinical Genetics, 2013, v. 83, n. 2, p. 108, doi. 10.1111/cge.12049
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- Article
7
Parent-child exome sequencing identifiesa de novo truncating mutation in TCF4 in non-syndromic intellectual disability.
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- Clinical Genetics, 2013, v. 83, n. 2, p. 198, doi. 10.1111/j.1399-0004.2012.01890.x
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- Article
8
PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 2, p. 169, doi. 10.1111/j.1399-0004.2012.01854.x
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- Article
9
Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?
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- Clinical Genetics, 2013, v. 83, n. 2, p. 187, doi. 10.1111/j.1399-0004.2012.01876.x
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- Article
10
Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.
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- Clinical Genetics, 2013, v. 83, n. 2, p. 125, doi. 10.1111/j.1399-0004.2012.01884.x
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- Article
11
Inheritance of the chronic myeloproliferative neoplasms. A systematic review.
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- Clinical Genetics, 2013, v. 83, n. 2, p. 99, doi. 10.1111/cge.12044
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- Article
12
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
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- Clinical Genetics, 2013, v. 83, n. 2, p. 145, doi. 10.1111/j.1399-0004.2012.01860.x
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- Article
13
Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation.
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- Clinical Genetics, 2013, v. 83, n. 2, p. 191, doi. 10.1111/j.1399-0004.2012.01882.x
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- Article
14
Balearic archipelago: three islands, three beta-thalassemia population patterns.
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- Clinical Genetics, 2013, v. 83, n. 2, p. 175, doi. 10.1111/j.1399-0004.2012.01864.x
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- Article
15
Clinical and molecular analysis of RASopathies in a group of Turkish patients.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 2, p. 181, doi. 10.1111/j.1399-0004.2012.01875.x
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- Publication type:
- Article