Sex-linked deafness.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 1, p. 14, doi. 10.1111/j.1399-0004.2007.00913.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2008 AND VI 73 AND IP 1
Results: 17
1
2
Analysis of the HFE gene (H63D and C282Y) mutations in patients with iron overload, family members and controls from Antioquia, Northwest Colombia.
- Published in:
- 2008
- By:
- Publication type:
- Letter
3
Array-based genotype–phenotype correlation in a case of supernumerary ring chromosome 12.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 1, p. 44, doi. 10.1111/j.1399-0004.2007.00917.x
- By:
- Publication type:
- Article
4
Two novel functional mutations in the Na<sup>+</sup>,K<sup>+</sup>-ATPase α2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 1, p. 37, doi. 10.1111/j.1399-0004.2007.00918.x
- By:
- Publication type:
- Article
5
De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma.
- Published in:
- 2008
- By:
- Publication type:
- Letter
6
Genetic heterogeneity of autosomal dominant hypercholesterolemia.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 1, p. 1, doi. 10.1111/j.1399-0004.2007.00915.x
- By:
- Publication type:
- Article
7
Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene.
- Published in:
- 2008
- By:
- Publication type:
- Letter
8
Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism.
- Published in:
- 2008
- By:
- Publication type:
- Letter
9
A life without pain? Hedonists take note.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 1, p. 31, doi. 10.1111/j.1399-0004.2007.00921.x
- By:
- Publication type:
- Article
10
When adaptive processes go awry: gain-of-function in SCN9A.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 1, p. 34, doi. 10.1111/j.1399-0004.2007.00922.x
- By:
- Publication type:
- Article
11
A novel arginine-to-cysteine substitution in the triple helical region of the α1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers–Danlos phenotype.
- Published in:
- 2008
- By:
- Publication type:
- Letter
12
Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA<sup>Ser(UCN)</sup> in sensorineural hearing loss.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 1, p. 50, doi. 10.1111/j.1399-0004.2007.00925.x
- By:
- Publication type:
- Article
13
Polymorphisms spanning the 0N exon and promoter of the estrogen receptor-beta (ERβ) gene ESR2 are associated with venous ulceration.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 1, p. 55, doi. 10.1111/j.1399-0004.2007.00927.x
- By:
- Publication type:
- Article
14
Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver–Russell syndrome.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 1, p. 79, doi. 10.1111/j.1399-0004.2007.00930.x
- By:
- Publication type:
- Article
15
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 1, p. 62, doi. 10.1111/j.1399-0004.2007.00931.x
- By:
- Publication type:
- Article
16
Myocardin gene regulatory variants as surrogate markers of cardiac hypertrophy – study in a genetically homogeneous population.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 1, p. 71, doi. 10.1111/j.1399-0004.2007.00932.x
- By:
- Publication type:
- Article
17
Skeletal dysplasias and the growth plate.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 1, p. 24, doi. 10.1111/j.1399-0004.2007.00933.x
- By:
- Publication type:
- Article