Wilms’ tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 6, p. 473, doi. 10.1111/j.1399-0004.2006.00700.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2006 AND VI 70 AND IP 6
Results: 19
1
2
Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 6, p. 490, doi. 10.1111/j.1399-0004.2006.00705.x
- By:
- Publication type:
- Article
3
Predictive and pre-natal testing for Huntington Disease in Australia: results and challenges encountered during a 10-year period (1994–2003).
- Published in:
- Clinical Genetics, 2006, v. 70, n. 6, p. 480, doi. 10.1111/j.1399-0004.2006.00701.x
- By:
- Publication type:
- Article
4
Searching for the Aicardi–Goutières syndrome genes: TREX1 and ribonuclease H2 make the cut.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 6, p. 457, doi. 10.1111/j.1399-0004.2006.00709_1.x
- By:
- Publication type:
- Article
5
Pejvakin echoes hope for the end of silence.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 6, p. 459, doi. 10.1111/j.1399-0004.2006.00709_2.x
- By:
- Publication type:
- Article
6
Neighbor trouble: defective exocrine acinar cell function causes diabetes.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 6, p. 460, doi. 10.1111/j.1399-0004.2006.00709_3.x
- By:
- Publication type:
- Article
7
Utilization of genetic counseling services by surgical oncologists: education a must.
- Published in:
- 2006
- By:
- Publication type:
- Letter
8
Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B.
- Published in:
- 2006
- By:
- Publication type:
- Letter
9
Evidence against a major genetic basis for combined breast and colorectal cancer susceptibility.
- Published in:
- 2006
- By:
- Publication type:
- Letter
10
A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1.
- Published in:
- 2006
- By:
- Publication type:
- Letter
11
Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 6, p. 496, doi. 10.1111/j.1399-0004.2006.00717.x
- By:
- Publication type:
- Article
12
Detection of an unusual 17p13.3 microdeletion by array comparative genomic hybridisation in a patient with lissencephaly.
- Published in:
- 2006
- By:
- Publication type:
- Letter
13
A gift or a yoke? Women’s and men’s responses to genetic risk information from BRCA1 and BRCA2 testing.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 6, p. 462, doi. 10.1111/j.1399-0004.2006.00720.x
- By:
- Publication type:
- Article
14
Brachydactyly type B1: report of a family with de novo ROR2 mutation.
- Published in:
- 2006
- By:
- Publication type:
- Letter
15
PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 6, p. 502, doi. 10.1111/j.1399-0004.2006.00721.x
- By:
- Publication type:
- Article
16
Mutations in the RSK2(RPS6KA3) gene cause Coffin–Lowry syndrome and nonsyndromic X-linked mental retardation.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 6, p. 509, doi. 10.1111/j.1399-0004.2006.00723.x
- By:
- Publication type:
- Article
17
Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 6, p. 516, doi. 10.1111/j.1399-0004.2006.00724.x
- By:
- Publication type:
- Article
18
Author index.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 6, p. i, doi. 10.1111/j.1399-0004.2006.00737.x
- Publication type:
- Article
19
Subject index.
- Published in:
- Clinical Genetics, 2006, v. 70, n. 6, p. iv, doi. 10.1111/j.1399-0004.2006.00738.x
- Publication type:
- Article