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Publications by Sophie Bonnal
Somatic Alterations Compromised Molecular Diagnosis of DOCK8 Hyper-IgE Syndrome Caused by a Novel Intronic Splice Site Mutation
Scientific Reports
Multidisciplinary
Erratum: U2af-Homology Motif Interactions Are Required for Alternative Splicing Regulation by SPF45
Nature Structural and Molecular Biology
Structural Biology
Molecular Biology
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955 First-Ever Case of Cerebral Toxoplasmosis in Hyper IGE Syndrome With DOCK8 Mutation
Archives of Disease in Childhood
Child Health
Pediatrics
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Intermediate Phenotypes in Patients With Autosomal Dominant Hyper-IgE Syndrome Caused by Somatic Mosaicism
Journal of Allergy and Clinical Immunology
Allergy
Immunology
OC1 Clinical and Molecular Features of Twenty Children With Hyper-IgE Syndrome Caused by Stat3 Gene Mutation in Mainland China
Novel Hereditary Spherocytosis-Associated Splice Site Mutation in the ANK1 Gene Caused by Parental Gonosomal Mosaicism
Haematologica
Hematology
Novel Splice Site IDUA Gene Mutation in Tunisian Pedigrees With Hurler Syndrome
Diagnostic Pathology
Forensic Medicine
Medicine
Pathology
Histology
A Novel Aberrant Splice Site Mutation in the APC Gene
Journal of Medical Genetics
Genetics
Janus Kinase 3 Deficiency Caused by a Homozygous Synonymous Exonic Mutation That Creates a Dominant Splice Site
Journal of Allergy and Clinical Immunology
Allergy
Immunology
A Family With Danon Disease Caused by a Splice Site Mutation in LAMP2 That Generates a Truncated Protein
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Intronic PRRT2 Mutation Generates Novel Splice Acceptor Site and Causes Paroxysmal Kinesigenic Dyskinesia With Infantile Convulsions (PKD/IC) in a Three Generation Family
BMC Medical Genetics
Genetics
