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Publications by L Guibaud
Mutations in the AP1S2 Gene Encoding the Sigma 2 Subunit of the Adaptor Protein 1 Complex Are Associated With Syndromic X-Linked Mental Retardation With Hydrocephalus and Calcifications in Basal Ganglia
Journal of Medical Genetics
Genetics
Related publications
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
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Five Novel Mutations in the L1CAM Gene in Families With X Linked Hydrocephalus.
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Linkage Mapping of a New Syndromic Form of X-Linked Mental Retardation, MRXS7, Associated With Obesity
European Journal of Human Genetics
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Mental Retardation Linked to Mutations in the HSD17B10 Gene Interfering With Neurosteroid and Isoleucine Metabolism
Proceedings of the National Academy of Sciences of the United States of America
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A Novel Splice Site Mutation in AP1S2 Gene for X-Linked Mental Retardation in a Chinese Pedigree and Literature Review
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Behavioral Neuroscience
X-Linked Primary Immunodeficiency Associated With Hemizygous Mutations in the Moesin (MSN) Gene
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Allergy
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Chromosomal Copy Number Changes in Patients With Non-Syndromic X Linked Mental Retardation Detected by Array CGH
Journal of Medical Genetics
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A Newly Defined X Linked Mental Retardation Syndrome Associated With Alpha Thalassaemia.
Journal of Medical Genetics
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Oculogyric Dystonic States in Early-Onset Parkinsonism With Basal Ganglia Calcifications
Neurology
Neurology
