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Publications by Jeanet A C ter Huurne

A Mutation Hotspot at the P14ARF Splice Site

Cancer Research

Molecular Biology

English

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A Novel Aberrant Splice Site Mutation in the APC Gene

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A Second Leaky Splice-Site Mutation in the Spastin Gene

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A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment

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Corrigendum: Sarcoidosis Is Associated With a Truncating Splice Site Mutation in the Gene BTNL2

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Novel Splice Site IDUA Gene Mutation in Tunisian Pedigrees With Hurler Syndrome

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A Patient Severely Affected by Spinal Neurofibromas Carries a Recurrent Splice Site Mutation in the NF1 Gene

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A Novel Splice Site Mutation in theRDXgene Causes DFNB24 Hearing Loss in an Iranian Family

American Journal of Medical Genetics, Part A

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Janus Kinase 3 Deficiency Caused by a Homozygous Synonymous Exonic Mutation That Creates a Dominant Splice Site

Journal of Allergy and Clinical Immunology

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A Novel Splice Site Mutation inSMARCAL1results in Aberrant Exon Definition in a Child With Schimke Immunoosseous Dysplasia

American Journal of Medical Genetics, Part A

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