Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 1, p. 47, doi. 10.1111/j.1399-0004.2008.01006.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2008 AND VI 74 AND IP 1
Results: 13
1
2
FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 1, p. 39, doi. 10.1111/j.1399-0004.2008.01007.x
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- Publication type:
- Article
3
Genetic aspects of human congenital diaphragmatic hernia.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 1, p. 1, doi. 10.1111/j.1399-0004.2008.01031.x
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- Publication type:
- Article
4
Concurrent microdeletion and duplication of 22q11.2.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 1, p. 61, doi. 10.1111/j.1399-0004.2008.01008.x
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- Publication type:
- Article
5
Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal.
- Published in:
- 2008
- By:
- Publication type:
- Letter
6
Knowledge and impressions regarding the concept of mutation among Japanese university students.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 1, p. 75, doi. 10.1111/j.1399-0004.2008.01013.x
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- Publication type:
- Article
7
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 1, p. 31, doi. 10.1111/j.1399-0004.2008.01014.x
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- Publication type:
- Article
8
Investigating genetic discrimination in Australia: a large-scale survey of clinical genetics clients.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 1, p. 20, doi. 10.1111/j.1399-0004.2008.01016.x
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- Publication type:
- Article
9
Early age-of-onset iron overload and homozygosity for the novel hemojuvelin mutation HJV R54X (exon 3; c.160A→T) in an African American male of West Indies descent.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 1, p. 88, doi. 10.1111/j.1399-0004.2008.01017.x
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- Publication type:
- Article
10
Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott–Aldrich syndrome.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 1, p. 68, doi. 10.1111/j.1399-0004.2008.01019.x
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- Publication type:
- Article
11
Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 1, p. 82, doi. 10.1111/j.1399-0004.2008.01024.x
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- Publication type:
- Article
12
Inclusion body myopathy, Paget’s disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 1, p. 54, doi. 10.1111/j.1399-0004.2008.00984.x
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- Publication type:
- Article
13
Mutations in sarcomeric protein genes not only lead to cardiomyopathy but also to congenital cardiovascular malformations.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 1, p. 16, doi. 10.1111/j.1399-0004.2008.00985.x
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- Publication type:
- Article