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Publications by Isabelle André-Schmutz

X-Linked Primary Immunodeficiency Associated With Hemizygous Mutations in the Moesin (MSN) Gene

Journal of Allergy and Clinical Immunology

English

Severe Combined Immunodeficiency in Sting V154m/Wt Mice

Journal of Allergy and Clinical Immunology

English

Related publications

Prune Belly Syndrome in Surviving Males Can Be Caused by Hemizygous Missense Mutations in the X-Linked Filamin a Gene

BMC Medical Genetics

English

Five Novel Mutations in the L1CAM Gene in Families With X Linked Hydrocephalus.

Journal of Medical Genetics

English

GPR143 Gene Mutations in Five Chinese Families With X-Linked Congenital Nystagmus

Scientific Reports

Multidisciplinary

English

Three Novel PHEX Gene Mutations in Japanese Patients With X-Linked Hypophosphatemic Rickets

Pediatric Research

English

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

English

Variable Retinal Phenotypes Caused by Mutations in the X-Linked Photopigment Gene Array

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

American Journal of Human Genetics

English

Mutation Analysis of the RPGR Gene Reveals Novel Mutations in South European Patients With X-Linked Retinitis Pigmentosa

European Journal of Human Genetics

English

Preclinical Development of Gene Therapy for X-Linked Severe Combined Immunodeficiency (SCID-X1)

English