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Gerard Schwartz

Sheba Medical Center

13

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237

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A Mutation Analysis of the Phenylalanine Hydroxylase (PAH) Gene in the Israeli Population

2008 Annals of Human Genetics
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Genotype–phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene

2008 Journal of Human Genetics
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Origins of hyperphenylalaninemia in Israel.

1994 European Journal of Human Genetics
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A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in North African Jews with phenylketonuria

1993 Human Genetics
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Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian kinship with phenylketonuria

1993 Human Molecular Genetics
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Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.

1993 Journal of Medical Genetics
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Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?

1992 Journal of Medical Genetics
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Hydroxylase Gene Site at the Phenylalanine in Phenyketonuria and Benign Hyperphenylalaninemia Among Palestinian Arabs

1992
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Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria.

1991 American Journal of Human Genetics
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A single origin of phenylketonuria in yemenite jews

1990 Nature
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