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Publications by E Lagrue

ADA2 Deficiency: Case Report of a New Phenotype and Novel Mutation in Two Sisters

English

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GNE Myopathy in Turkish Sisters With a Novel Homozygous Mutation

Case Reports in Neurological Medicine

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Isolated Growth Hormone Deficiency Type 2 Due to a Novel GH1 Mutation: A Case Report

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Identification of Three ADA2 Deficiency Families With Novel CECR1 Mutations

Pediatric Rheumatology

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A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated With Mild Immunological Phenotype

Journal of Clinical Immunology

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A Novel Homozygous Frame-Shift Mutation in the SLC29A3 Gene: A New Case Report and Review of Literature

BMC Medical Genetics

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TRAPPC9-related Autosomal Recessive Intellectual Disability: Report of a New Mutation and Clinical Phenotype

European Journal of Human Genetics

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Complete Androgen Insensitivity Syndrome in Three Sisters: A Case Report

Turk Jinekoloji ve Obstetrik Dernegi Dergisi

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A Novel Site Mutation in a Wiskott-Aldrich Syndrome Boy: A Case Report

Biomedical Journal of Scientific & Technical Research

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Hyperimmunoglobulinaemia D Syndrome in India: Report of Two Siblings With a Novel Mutation

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Molecular Biology

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