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Publications by Gajja S Salomons

Characterization of Novel SLC6A8 Variants With the Use of Splice-Site Analysis Tools and Implementation of a Newly Developed LOVD Database

European Journal of Human Genetics

English

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Two Novel NF1 Pathogenic Variants Causing the Creation of a New Splice Site in Patients With Neurofibromatosis Type I

Frontiers in Genetics

Molecular Medicine

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Cloning and Characterization of Novel Testis-Specific Diacylglycerol Kinase Η Splice Variants 3 and 4

Multidisciplinary

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Identification and Characterization of Naturally Occurring Splice Variants of SAMHD1

Infectious Diseases

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Identification of Two Novel mRNA Splice Variants of Bax

Cell Death and Differentiation

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Functional Implications of Novel Human Acid Sphingomyelinase Splice Variants

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Identification and Characterization of Alternative Splice Variants of the Mouse Trek2/Kcnk10 Gene

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SpliceCombo: A Hybrid Technique Efficiently Use for Principal Component Analysis of Splice Site Prediction

Ingenierie des Systemes d'Information

Information Systems

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Expression Analysis and Functional Activity of Interleukin-7 Splice Variants

Genes and Immunity

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A Novel Aberrant Splice Site Mutation in the APC Gene

Journal of Medical Genetics

English