Monogenic traits are not simple: lessons from phenylketonuria von Scriver, Charles R., Waters, Paula J.

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After the genome—the phenome? von Scriver, C. R.

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Certification of a fish otolith reference material in support of quality assurance for trace element analysis von Sturgeon, R. E., Willie, S. N., Yang, L., Greenberg, R., Spatz, R. O., Chen, Z., Scriver, C., Clancy, V., Lam, J. W., Thorrold, S.

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Human genetics: lessons from Quebec populations von Scriver, C R

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Proof of "disease causing" mutation von Cotton, RGH, Scriver, CR

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What we know that could influence future treatment of phenylketonuria von Sarkissian, C. N, Gámez, A, Scriver, C. R

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Recommendations for locus-specific databases and their curation von Cotton, R.G.H, Auerbach, A.D, Beckmann, J.S, Blumenfeld, O.O, Brookes, A.J, Brown, A.F, Carrera, P, Cox, D.W, Gottlieb, B, Greenblatt, M.S, Hilbert, P, Lehvaslaiho, H, Liang, P, Marsh, S, Nebert, D.W, Povey, S, Rossetti, S, Scriver, C.R, Summar, M, Tolan, D.R, Verma, I.C, Vihinen, M, den Dunnen, J.T

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Phenylalanine hydroxylase deficiency von Mitchell, John J, Trakadis, Yannis J, Scriver, Charles R

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Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations von Kayaalp, Emre, Treacy, Eileen, Waters, Paula J., Byck, Susan, Nowacki, Piotr, Scriver, Charles R.

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Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and β-thalassemia disease carriers in high schools von MITCHELL, J. J, CAPUA, A, CLOW, C, SCRIVER, C. R

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A rapid procedure for extracting genomic DNA from leukocytes von JOHN, S. W. M, WEITZNER, G, ROZEN, R, SCRIVER, C. R

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Translating knowledge into practice in the post-genome era von SCRIVER, C. R

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The Birth Prevalence of PKU in Populations of European, South Asian and Sub‐Saharan African Ancestry Living in South East England von Hardelid, P., Cortina‐Borja, M., Munro, A., Jones, H., Cleary, M., Champion, M. P., Foo, Y., Scriver, C. R., Dezateux, C.

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Effect of gene dose and parental origin on bone histomorphometry in X-linked Hyp mice von Qiu, Z.Q, Travers, R, Rauch, F, Glorieux, F.H, Scriver, C.R, Tenenhouse, H.S

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CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene von Murphy, B.C., Scriver, C.R., Singh, S.M.

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A Different Approach to Treatment of Phenylketonuria: Phenylalanine Degradation with Recombinant Phenylalanine Ammonia Lyase von Sarkissian, Christineh N., Shao, Zhongqi, Blain, Francoise, Peevers, Rosalie, Su, Hongsheng, Heft, Robert, Thomas M. S. Chang, Scriver, Charles R.

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Garrod's foresight; our hindsight von Scriver, C. R.

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The Clinical Phenotype and Outcome of Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (β-Ketothiolase or T2 Deficiency) in 26 Enzymatically Proved and Mutation-Defined Patients von Fukao, Toshiyuki, Scriver, Charles R., Kondo, Naomi

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Does hereditary metabolic disease modulate senescence and ageing? von Scriver, C. R.

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Expression and molecular analysis of mutations in prolidase deficiency von LEDOUX, P, SCRIVER, C. R, HECHTMAN, P

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