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Publications by D Heron
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
Filippi Syndrome: A New Case With Skeletal Abnormalities.
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
Genetics
Five Novel Mutations in the L1CAM Gene in Families With X Linked Hydrocephalus.
Journal of Medical Genetics
Genetics
Linkage Mapping of a New Syndromic Form of X-Linked Mental Retardation, MRXS7, Associated With Obesity
European Journal of Human Genetics
Genetics
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
Multidisciplinary
A Novel Splice Site Mutation in AP1S2 Gene for X-Linked Mental Retardation in a Chinese Pedigree and Literature Review
Brain and Behavior
Behavioral Neuroscience
X-Linked Primary Immunodeficiency Associated With Hemizygous Mutations in the Moesin (MSN) Gene
Journal of Allergy and Clinical Immunology
Allergy
Immunology
Chromosomal Copy Number Changes in Patients With Non-Syndromic X Linked Mental Retardation Detected by Array CGH
Journal of Medical Genetics
Genetics
A Newly Defined X Linked Mental Retardation Syndrome Associated With Alpha Thalassaemia.
Journal of Medical Genetics
Genetics
Oculogyric Dystonic States in Early-Onset Parkinsonism With Basal Ganglia Calcifications
Neurology
Neurology
