Two clinical forms of glycogen-storage disease type II in two generations of the same family.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Works matching IS 00099163 AND DT 2006 AND VI 69 AND IP 2
Results: 18
1
2
Educational outcomes of a workplace screening program for genetic susceptibility to hemochromatosis.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 2, p. 163, doi. 10.1111/j.1399-0004.2005.00566.x
- By:
- Publication type:
- Article
3
Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris.
- Published in:
- 2006
- By:
- Publication type:
- Letter
4
Evaluation of two different models to predict BRCA1 and BRCA2 mutations in a cohort of Danish hereditary breast and/or ovarian cancer families.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 2, p. 171, doi. 10.1111/j.1399-0004.2006.00568.x
- By:
- Publication type:
- Article
5
Jewels in the rough – the study of non-coding genomic sequences as a conduit to understanding human disease.
- Published in:
- 2006
- By:
- Publication type:
- Other
6
Ultrasound detection of placental insufficiency in women with ‘unexplained’ abnormal maternal serum screening results.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 2, p. 97, doi. 10.1111/j.1399-0004.2005.00546.x
- By:
- Publication type:
- Article
7
Familial carpal tunnel syndrome: further evidence for a genetic contribution.
- Published in:
- 2006
- By:
- Publication type:
- Letter
8
In Memoriam.
- Published in:
- 2006
- By:
- Publication type:
- Obituary
9
Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 2, p. 135, doi. 10.1111/j.1399-0004.2006.00559.x
- By:
- Publication type:
- Article
10
15q Duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 2, p. 124, doi. 10.1111/j.1399-0004.2005.00560.x
- By:
- Publication type:
- Article
11
Vesicoureteric reflux and renal malformations: a developmental problem.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 2, p. 105, doi. 10.1111/j.1399-0004.2005.00562.x
- By:
- Publication type:
- Article
12
Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 2, p. 155, doi. 10.1111/j.1399-0004.2005.00563.x
- By:
- Publication type:
- Article
13
Quantification of all fetal nucleated cells in maternal blood in different cases of aneuploidies.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 2, p. 145, doi. 10.1111/j.1399-0004.2005.00564.x
- By:
- Publication type:
- Article
14
Multiple gynecologic tumors as rare associated phenotypes of FAP/Gardner syndrome in a family with the novel germline mutation in the APC gene.
- Published in:
- 2006
- By:
- Publication type:
- Letter
15
Trans-species aneuploidy model: the little mouse that could.
- Published in:
- 2006
- By:
- Publication type:
- Other
16
Clinical and molecular characterization of a new syndrome: the case of 3q29 microdeletion syndrome.
- Published in:
- 2006
- By:
- Publication type:
- Other
17
Corrigendum.
- Published in:
- 2006
- Publication type:
- Correction Notice
18
Announcement.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 2, p. 198, doi. 10.1111/j.1399-0004.2006.00572.x
- Publication type:
- Article