De novo CDH1 mutation in a family presenting with early-onset diffuse gastric cancer.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 3, p. 283, doi. 10.1111/j.1399-0004.2011.01744.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2012 AND VI 82 AND IP 3
Results: 19
1
2
Preimplantation and prenatal genetic diagnosis for androgen insensitivity syndrome resulting from a novel deletion/insertion mutation.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 3, p. 295, doi. 10.1111/j.1399-0004.2012.01847.x
- By:
- Publication type:
- Article
3
Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 3, p. 292, doi. 10.1111/j.1399-0004.2011.01839.x
- By:
- Publication type:
- Article
4
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 3, p. 248, doi. 10.1111/j.1399-0004.2011.01755.x
- By:
- Publication type:
- Article
5
A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 3, p. 264, doi. 10.1111/j.1399-0004.2011.01743.x
- By:
- Publication type:
- Article
6
Rethinking the genetic basis and inheritance of fascioscapulohumeral muscular dystrophy.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 3, p. 219, doi. 10.1111/j.1399-0004.2012.01913.x
- By:
- Publication type:
- Article
7
Regulating the communication of genetic risk information: the Italian legal approach to questions of confidentiality and disclosure.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 3, p. 205, doi. 10.1111/j.1399-0004.2012.01935.x
- By:
- Publication type:
- Article
8
High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 3, p. 277, doi. 10.1111/j.1399-0004.2011.01751.x
- By:
- Publication type:
- Article
9
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 3, p. 232, doi. 10.1111/j.1399-0004.2011.01786.x
- By:
- Publication type:
- Article
10
New insights into familial diarrhea syndrome.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 3, p. 221, doi. 10.1111/j.1399-0004.2012.01911.x
- By:
- Publication type:
- Article
11
A phase 1 enzyme replacement study offers promise for severe hypophospahatasia.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 3, p. 220, doi. 10.1111/j.1399-0004.2012.01912.x
- By:
- Publication type:
- Article
12
Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 3, p. 240, doi. 10.1111/j.1399-0004.2011.01771.x
- By:
- Publication type:
- Article
13
Direct to consumer genetic testing: a systematic review of position statements, policies and recommendations.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 3, p. 210, doi. 10.1111/j.1399-0004.2012.01863.x
- By:
- Publication type:
- Article
14
Corrigendum.
- Published in:
- 2012
- Publication type:
- Erratum
15
Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 3, p. 297, doi. 10.1111/j.1399-0004.2012.01849.x
- By:
- Publication type:
- Article
16
High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 3, p. 271, doi. 10.1111/j.1399-0004.2011.01741.x
- By:
- Publication type:
- Article
17
Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 3, p. 223, doi. 10.1111/j.1399-0004.2011.01781.x
- By:
- Publication type:
- Article
18
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).
- Published in:
- Clinical Genetics, 2012, v. 82, n. 3, p. 256, doi. 10.1111/j.1399-0004.2011.01745.x
- By:
- Publication type:
- Article
19
'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 3, p. 288, doi. 10.1111/j.1399-0004.2011.01785.x
- By:
- Publication type:
- Article