Works matching IS 00099163 AND DT 2008 AND VI 73 AND IP 3
Results: 17
A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene.
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- Clinical Genetics, 2008, v. 73, n. 3, p. 245, doi. 10.1111/j.1399-0004.2007.00902.x
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- Article
Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan’s disease.
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- 2008
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- Publication type:
- Letter
Identification of a novel TGFBR1 mutation in a Loeys–Dietz syndrome type II patient with vascular Ehlers–Danlos syndrome phenotype.
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- 2008
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- Publication type:
- Letter
Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome.
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- Clinical Genetics, 2008, v. 73, n. 3, p. 257, doi. 10.1111/j.1399-0004.2007.00944.x
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- Article
Genetic polymorphisms of matrix metalloproteinases in lung, breast and colorectal cancer.
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- Clinical Genetics, 2008, v. 73, n. 3, p. 197, doi. 10.1111/j.1399-0004.2007.00946.x
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- Article
Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.
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- Clinical Genetics, 2008, v. 73, n. 3, p. 262, doi. 10.1111/j.1399-0004.2007.00947.x
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- Article
Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula.
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- Clinical Genetics, 2008, v. 73, n. 3, p. 251, doi. 10.1111/j.1399-0004.2007.00951.x
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- Article
ATM, an unexpected new target in metabolic syndrome.
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- Clinical Genetics, 2008, v. 73, n. 3, p. 227, doi. 10.1111/j.1399-0004.2007.00952_1.x
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- Article
LRP6: a link between the multiple disorders of the metabolic syndrome.
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- Clinical Genetics, 2008, v. 73, n. 3, p. 228, doi. 10.1111/j.1399-0004.2007.00952_2.x
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- Article
RPGRIP1: a novel ciliary gene involved in cerebellar disorders.
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- Clinical Genetics, 2008, v. 73, n. 3, p. 229, doi. 10.1111/j.1399-0004.2007.00952_3.x
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- Article
Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia.
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- Clinical Genetics, 2008, v. 73, n. 3, p. 268, doi. 10.1111/j.1399-0004.2007.00953.x
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- Article
Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene ( GNPTAB) in a French Canadian founder population.
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- Clinical Genetics, 2008, v. 73, n. 3, p. 236, doi. 10.1111/j.1399-0004.2007.00954.x
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- Article
MMP2 promoter polymorphism (C-1306T) and risk of recurrence in patients with hepatocellular carcinoma after transplantation.
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- Clinical Genetics, 2008, v. 73, n. 3, p. 273, doi. 10.1111/j.1399-0004.2007.00955.x
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- Article
Hypophosphatasia update: recent advances in diagnosis and treatment.
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- Clinical Genetics, 2008, v. 73, n. 3, p. 232, doi. 10.1111/j.1399-0004.2007.00958.x
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- Article
Three new patients with dup(17)(p11.2p11.2) without autism.
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- 2008
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- Publication type:
- Letter
Genotype–phenotype correlation in five Pelizaeus–Merzbacher disease patients with PLP1 gene duplications.
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- Clinical Genetics, 2008, v. 73, n. 3, p. 279, doi. 10.1111/j.1399-0004.2007.00961.x
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- Article
Homeobox genes in vertebrate forebrain development and disease.
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- Clinical Genetics, 2008, v. 73, n. 3, p. 212, doi. 10.1111/j.1399-0004.2008.00967.x
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- Publication type:
- Article