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Publications by Chantal Brouzes
X-Linked Primary Immunodeficiency Associated With Hemizygous Mutations in the Moesin (MSN) Gene
Journal of Allergy and Clinical Immunology
Allergy
Immunology
Prognostic Factors of Disease Severity in Infants With Sickle Cell Anemia: A Comprehensive Longitudinal Cohort Study
American Journal of Hematology
Hematology
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Prune Belly Syndrome in Surviving Males Can Be Caused by Hemizygous Missense Mutations in the X-Linked Filamin a Gene
BMC Medical Genetics
Genetics
Five Novel Mutations in the L1CAM Gene in Families With X Linked Hydrocephalus.
Journal of Medical Genetics
Genetics
GPR143 Gene Mutations in Five Chinese Families With X-Linked Congenital Nystagmus
Scientific Reports
Multidisciplinary
Three Novel PHEX Gene Mutations in Japanese Patients With X-Linked Hypophosphatemic Rickets
Pediatric Research
Child Health
Pediatrics
Perinatology
Mutations in the ZNF41 Gene Are Associated With Cognitive Deficits: Identification of a New Candidate for X-Linked Mental Retardation
American Journal of Human Genetics
Genetics
Variable Retinal Phenotypes Caused by Mutations in the X-Linked Photopigment Gene Array
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy
American Journal of Human Genetics
Genetics
Mutation Analysis of the RPGR Gene Reveals Novel Mutations in South European Patients With X-Linked Retinitis Pigmentosa
European Journal of Human Genetics
Genetics
Preclinical Development of Gene Therapy for X-Linked Severe Combined Immunodeficiency (SCID-X1)
Blood
Biochemistry
Immunology
Cell Biology
Hematology