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Publications by E Hillas

Phenotypic Expression of Heterozygous Lipoprotein Lipase Deficiency in the Extended Pedigree of a Proband Homozygous for a Missense Mutation.

Journal of Clinical Investigation

English

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Identification of a Novel Compound Heterozygous Mutation of the CYP21A2 Gene Causing 21‑hydroxylase Deficiency in a Chinese Pedigree

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Association of a Homozygous GCK Missense Mutation With Mild Diabetes

Molecular genetics & genomic medicine

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English

Postheparin Plasma Lipoprotein Lipase Activity in Heterozygotes of Familial Lipoprotein Lipase Deficiency.

Tohoku Journal of Experimental Medicine

Molecular Biology

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A Novel Missense Mutation in ANO5/TMEM16E Is Causative for Gnathodiaphyseal Dyplasia in a Large Italian Pedigree

European Journal of Human Genetics

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Compound Heterozygous Hemophilia a in a Female Patient and the Identification of a Novel Missense Mutation, p.Met1093Ile

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Phenotypic Characterization of Mice Heterozygous for a Null Mutation of Glutamate Carboxypeptidase II

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A Compound Heterozygous Mutation of Lipase Maturation Factor 1 Is Responsible for Hypertriglyceridemia of a Patient

Journal of Atherosclerosis and Thrombosis

Internal Medicine

Cardiovascular Medicine

English

Heterogeneous Mutations in the Human Lipoprotein Lipase Gene in Patients With Familial Lipoprotein Lipase Deficiency.

Journal of Clinical Investigation

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Variability of Clinical Manifestation of Factor VII-deficiency in Homozygous and Heterozygous Subjects of the European F7 Gene Mutation A294V

English