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Publications by Saul Merin
Variable Retinal Phenotypes Caused by Mutations in the X-Linked Photopigment Gene Array
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa With Late-Onset Hearing Loss
PLoS ONE
Multidisciplinary
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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
X-Linked Primary Immunodeficiency Associated With Hemizygous Mutations in the Moesin (MSN) Gene
Journal of Allergy and Clinical Immunology
Allergy
Immunology
A Human Immunodeficiency Caused by Mutations in the PIK3R1 Gene
Journal of Clinical Investigation
Medicine
Hereditary Spastic Paraplegia Caused by Mutations in the SPG4 Gene
European Journal of Human Genetics
Genetics
GPR143 Gene Mutations in Five Chinese Families With X-Linked Congenital Nystagmus
Scientific Reports
Multidisciplinary
Unstable Mutations in the FMR1 Gene and the Phenotypes
Advances in Experimental Medicine and Biology
Biochemistry
Medicine
Genetics
Molecular Biology
Retinal Function in X-Linked Juvenile Retinoschisis
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Premature Termination of Variable Gene Rearrangement in B Lymphocytes From X-Linked Agammaglobulinemia.
Journal of Clinical Investigation
Medicine
