Found: 17
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Fidelity of whole-genome amplification of blood spot DNA for HLA typing and SNP analyses.
- Published in:
- 2007
- By:
- Publication type:
- Letter
The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 2, p. 112, doi. 10.1111/j.1399-0004.2007.00821.x
- By:
- Publication type:
- Article
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 2, p. 98, doi. 10.1111/j.1399-0004.2007.00832.x
- By:
- Publication type:
- Article
Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 2, p. 130, doi. 10.1111/j.1399-0004.2007.00828.x
- By:
- Publication type:
- Article
Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 2, p. 122, doi. 10.1111/j.1399-0004.2007.00827.x
- By:
- Publication type:
- Article
Exceptional good cognitive and phenotypic profile in a male carrying a mosaic mutation in the FMR1 gene.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 2, p. 138, doi. 10.1111/j.1399-0004.2007.00829.x
- By:
- Publication type:
- Article
Sweet successes in diabetes genetics.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 2, p. 83, doi. 10.1111/j.1399-0004.2007.00835.x
- By:
- Publication type:
- Article
Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 2, p. 145, doi. 10.1111/j.1399-0004.2007.00836.x
- By:
- Publication type:
- Article
A comparison of counselee and counselor satisfaction in reproductive genetic counseling.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 2, p. 74, doi. 10.1111/j.1399-0004.2007.00834.x
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- Publication type:
- Article
Response to Cohen.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 2, p. 161, doi. 10.1111/j.1399-0004.2007.00838.x
- By:
- Publication type:
- Article
Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 2, p. 109, doi. 10.1111/j.1399-0004.2007.00843.x
- By:
- Publication type:
- Article
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 2, p. 150, doi. 10.1111/j.1399-0004.2007.00839.x
- By:
- Publication type:
- Article
Transmission of familial Mediterranean fever mutations following bone marrow transplantation.
- Published in:
- 2007
- By:
- Publication type:
- Letter
Validation study of thelambda model for predicting the BRCA1 or BRCA2 mutation carrier status of North American Ashkenazi Jewish women.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 2, p. 87, doi. 10.1111/j.1399-0004.2007.00841.x
- By:
- Publication type:
- Article
The importance of the fetal origins of adult disease for geneticists.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 2, p. 67, doi. 10.1111/j.1399-0004.2007.00842.x
- By:
- Publication type:
- Article