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Molecular genetics of autosomal recessive polycystic kidney disease

Molecular Genetics and Metabolism | 2004 | 10.1016/j.ymgme.2003.10.010

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Plasma phenylalanine concentrations are associated with hepatic iron content in a murine model for phenylketonuria

Molecular Genetics and Metabolism | 2004 | 10.1016/j.ymgme.2004.01.017

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Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor

Molecular Genetics and Metabolism | 2010 | 10.1016/j.ymgme.2009.09.004

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Determination of selected β-receptor antagonists in biological samples by solid-phase extraction with cholesterolic phase and LC/MS

Analytical and Bioanalytical Chemistry | 2008 | 10.1007/s00216-008-2369-1

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A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal.

Molecular Genetics and Metabolism | 2007 | 10.1016/j.ymgme.2007.01.005

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Increasing the specificity and function of DNA microarrays by processing arrays at different stringencies

Analytical and Bioanalytical Chemistry | 2009 | 10.1007/s00216-009-2848-z

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Analysis of FOXO1A as a candidate gene for type 2 diabetes

Molecular Genetics and Metabolism | 2006 | 10.1016/j.ymgme.2006.01.003

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Soya lecithin effects on the aerobic biodegradation of polychlorinated biphenyls in an artificially contaminated soil

Biotechnology and Bioengineering | 2001 | 10.1002/1097-0290(20000120)72:2

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Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms

Molecular Genetics and Metabolism | 2008 | 10.1016/j.ymgme.2008.06.002

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The spectrum of phenylketonuria genotypes in the Armenian population: Identification of three novel mutant PAH alleles

Molecular Genetics and Metabolism | 2011 | 10.1016/j.ymgme.2011.08.006

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Analysing persistent organic pollutants in eggs, blood and tissue of the green sea turtle (Chelonia mydas) using gas chromatography with tandem mass spectrometry (GC-MS/MS)

Analytical and Bioanalytical Chemistry | 2009 | 10.1007/s00216-009-2608-0

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Addendum to “Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency” (Mol. Genet. Metab. 77 (2002) 195–201)

Molecular Genetics and Metabolism | 2003 | 10.1016/S1096-7192(02)00202-0

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Quantum phase transitions in the sub-ohmic spin-boson model: Failure of the quantum-classical mapping

Physical Review Letters | 2004 | 10.1103/PhysRevLett.94.070604

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Chemiluminescence assay for quinones based on generation of reactive oxygen species through the redox cycle of quinone

Analytical and Bioanalytical Chemistry | 2008 | 10.1007/s00216-008-2541-7

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Optic atrophies in metabolic disorders

Molecular Genetics and Metabolism | 2005 | 10.1016/j.ymgme.2005.07.034

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125. The natural history of mucolipidosis type IV

Molecular Genetics and Metabolism | 2010 | 10.1016/j.ymgme.2009.10.142

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Insulin-Inducible Changes in the Relative Ratio of PTP1B Splice Variants

Molecular Genetics and Metabolism | 1999 | 10.1006/mgme.1998.2792

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Electric Dipole Moment of the Neutron in a Left-right Symmetric Theory of {CP} Violation

Physical Review Letters | 1981 | 10.1103/PhysRevLett.47.552

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Water-compatible molecularly imprinted polymer for the selective recognition of fluoroquinolone antibiotics in biological samples

Analytical and Bioanalytical Chemistry | 2008 | 10.1007/s00216-008-2405-1

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Cardiac manifestations in the mouse model of mucopolysaccharidosis I

Molecular Genetics and Metabolism | 2005 | 10.1016/j.ymgme.2005.05.003

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