Short Report Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism?
- Published in:
- Clinical Genetics, 2004, v. 65, n. 1, p. 7, doi. 10.1111/j..2004.00163.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2004 AND VI 65 AND IP 1
Results: 18
1
2
Short Report Cryptic chromosomal rearrangement screening in 30 patients with mental retardation and dysmorphic features.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 1, p. 17, doi. 10.1111/j..2004.00167.x
- By:
- Publication type:
- Article
3
Short Report Predictive testing for Huntington's disease: relationship with partners after testing.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 1, p. 24, doi. 10.1111/j..2004.00168.x
- By:
- Publication type:
- Article
4
Letter to the Editor SDHD mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism.
- Published in:
- 2004
- By:
- Publication type:
- Letter
5
Short Report Screening for Down's syndrome in early and late first and second trimester using six maternal serum markers.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 1, p. 11, doi. 10.1111/j..2004.00177.x
- By:
- Publication type:
- Article
6
Short Report Cytogenetic and molecular analysis of a family with three brothers afflicted with germ-cell cancer.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 1, p. 32, doi. 10.1111/j..2004.00180.x
- By:
- Publication type:
- Article
7
Letter to the Editor Paternal origin of LMNA mutations in Hutchinson–Gilford progeria.
- Published in:
- 2004
- By:
- Publication type:
- Letter
8
Short Report Refining the primary open-angle glaucoma GLC1C region on chromosome 3 by haplotype analysis.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 1, p. 40, doi. 10.1111/j..2004.00182.x
- By:
- Publication type:
- Article
9
Letter to the Editor Vitamin D receptor gene variants of BsmI, ApaI, TaqI, and FokI polymorphisms in spinal tuberculosis.
- Published in:
- 2004
- By:
- Publication type:
- Letter
10
Letter to the Editor Cerebellar ataxia as atypical manifestation of the 3243A>G MELAS mutation.
- Published in:
- 2004
- By:
- Publication type:
- Letter
11
Letter to the Editor An integrated approach to management of Marfan syndrome caused by an FBN1 exon 18 mutation in an Australian Aboriginal family.
- Published in:
- 2004
- By:
- Publication type:
- Letter
12
Letter to the Editor A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel α<sub>1A</sub>-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine.
- Published in:
- 2004
- By:
- Publication type:
- Letter
13
Short Report Willingness to donate blood samples for genetic research: a survey from a community in Singapore.
- Published in:
- Clinical Genetics, 2004, v. 65, n. 1, p. 45, doi. 10.1111/j..2004.00192.x
- By:
- Publication type:
- Article
14
Letter to the Editor Limb girdle muscular dystrophy: use of dHPLC and direct sequencing to detect sarcoglycan gene mutations in a New Zealand cohort.
- Published in:
- 2004
- By:
- Publication type:
- Letter
15
HotSpot Genes, screens, and means for advancing the diagnosis and anticipatory care of individuals with congenital intellectual disability.
- Published in:
- 2004
- By:
- Publication type:
- Other
16
HotSpot The dichotomy of causation vs consequence in ID.
- Published in:
- 2004
- Publication type:
- Other
17
HotSpot Unmasking the hidden ID of congenital ID causation.
- Published in:
- 2004
- Publication type:
- Other
18
HotSpot Advocating a gene-based template of care for congenital intellectual disability.
- Published in:
- 2004
- Publication type:
- Other