Carrier screening for cystic fibrosis in US genetic testing laboratories: a survey of laboratory directors.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 4, p. 367, doi. 10.1111/j.1399-0004.2008.01070.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 2008 AND VI 74 AND IP 4
Results: 17
1
2
Metachromatic leukodystrophy – mutation analysis provides further evidence of genotype–phenotype correlation.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 4, p. 349, doi. 10.1111/j.1399-0004.2008.01058.x
- By:
- Publication type:
- Article
3
Gaucher disease diagnosed in a 30-year-old black man.
- Published in:
- 2008
- By:
- Publication type:
- Letter
4
Alterations in the SMARCB1 ( INI1) tumor suppressor gene in familial schwannomatosis.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 4, p. 358, doi. 10.1111/j.1399-0004.2008.01060.x
- By:
- Publication type:
- Article
5
A novel 19-bp deletion of exon 15 in the HMBS gene causing acute intermittent porphyria associating with rhabdomyolysis during an acute attack.
- Published in:
- 2008
- By:
- Publication type:
- Letter
6
Birth defects before epigenesis.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 4, p. 338, doi. 10.1111/j.1399-0004.2008.01020.x
- By:
- Publication type:
- Article
7
Alu-related 5q35 microdeletions in Sotos syndrome.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 4, p. 384, doi. 10.1111/j.1399-0004.2008.01032.x
- By:
- Publication type:
- Article
8
Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 4, p. 374, doi. 10.1111/j.1399-0004.2008.01034.x
- By:
- Publication type:
- Article
9
Attitudes antecedent to transition to self-management of a chronic genetic disorder.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 4, p. 325, doi. 10.1111/j.1399-0004.2008.01052.x
- By:
- Publication type:
- Article
10
MicroRNA epigenetic alterations: predicting biomarkers and therapeutic targets in human diseases.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 4, p. 307, doi. 10.1111/j.1399-0004.2008.01075.x
- By:
- Publication type:
- Article
11
MicroRNAs in development and disease.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 4, p. 296, doi. 10.1111/j.1399-0004.2008.01076.x
- By:
- Publication type:
- Article
12
Confirmation of RAX gene involvement in human anophthalmia.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 4, p. 392, doi. 10.1111/j.1399-0004.2008.01078.x
- By:
- Publication type:
- Article
13
Promoting ectopic pancreatic fates: pancreas development and future diabetes therapies.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 4, p. 316, doi. 10.1111/j.1399-0004.2008.01081.x
- By:
- Publication type:
- Article
14
STXBP1: the second synaptic vesicle release gene involved in epilepsy.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 4, p. 343, doi. 10.1111/j.1399-0004.2008.01084_1.x
- By:
- Publication type:
- Article
15
Common vs rare variants and a case for neurodevelopment in schizophrenia.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 4, p. 346, doi. 10.1111/j.1399-0004.2008.01084_3.x
- By:
- Publication type:
- Article
16
Victor A. McKusick, M.D.: A legend in his own time.
- Published in:
- 2008
- By:
- Publication type:
- Obituary
17
Williams–Beuren syndrome: novel risk alleles in transmitting parents.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 4, p. 344, doi. 10.1111/j.1399-0004.2008.01084_2.x
- By:
- Publication type:
- Article