Found: 16
Select item for more details and to access through your institution.
A successful screening for Fabry disease in a Chinese dialysis patient population.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 2, p. 219, doi. 10.1111/j.1399-0004.2009.01166.x
- By:
- Publication type:
- Article
Genetic testing in familial AD and FTD: Mutation and phenotype spectrum in a Danish cohort.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 2, p. 205, doi. 10.1111/j.1399-0004.2009.01191.x
- By:
- Publication type:
- Article
Dr. Anne M. Summers MD, FRCPC, FCCMG: October 16, 1954–March 14, 2009.
- Published in:
- 2009
- By:
- Publication type:
- Obituary
Genotype–phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 2, p. 168, doi. 10.1111/j.1399-0004.2009.01200.x
- By:
- Publication type:
- Article
Comprehensive mutational analysis of BRCA1/BRCA2 for Korean breast cancer patients: evidence of a founder mutation.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 2, p. 152, doi. 10.1111/j.1399-0004.2009.01202.x
- By:
- Publication type:
- Article
Phenotypic and molecular characterization of a novel DCX deletion and a review of the literature.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 2, p. 214, doi. 10.1111/j.1399-0004.2009.01206.x
- By:
- Publication type:
- Article
BRCA2 alteration is important in clear cell carcinoma of the ovary.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 2, p. 161, doi. 10.1111/j.1399-0004.2009.01207.x
- By:
- Publication type:
- Article
SURF1 missense mutations promote a mild Leigh phenotype.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 2, p. 195, doi. 10.1111/j.1399-0004.2009.01195.x
- By:
- Publication type:
- Article
Validation of MCADD newborn screening.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 2, p. 179, doi. 10.1111/j.1399-0004.2009.01217.x
- By:
- Publication type:
- Article
Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 2, p. 188, doi. 10.1111/j.1399-0004.2009.01236.x
- By:
- Publication type:
- Article
Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 2, p. 210, doi. 10.1111/j.1399-0004.2009.01235.x
- By:
- Publication type:
- Article
The brachydactylies: a molecular disease family.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 2, p. 123, doi. 10.1111/j.1399-0004.2009.01238.x
- By:
- Publication type:
- Article
Development and disease of the photoreceptor cilium.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 2, p. 137, doi. 10.1111/j.1399-0004.2009.01240.x
- By:
- Publication type:
- Article
MCAD mutations identified in newborn screening cause different levels of enzymatic dysfunction.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 2, p. 146, doi. 10.1111/j.1399-0004.2009.01247_1.x
- By:
- Publication type:
- Article
IFRD1 modulates disease severity in cystic fibrosis through the regulation of neutrophil effector function.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 2, p. 148, doi. 10.1111/j.1399-0004.2009.01247_2.x
- By:
- Publication type:
- Article
SYNGAP: bridging the gap between genetic factors and autosomal non-syndromic mental retardation.
- Published in:
- Clinical Genetics, 2009, v. 76, n. 2, p. 149, doi. 10.1111/j.1399-0004.2009.01247_3.x
- By:
- Publication type:
- Article