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Publications by James R. Lupski
A Rare Myelin Protein Zero (MPZ) Variant Alters Enhancer Activity in Vitro and in Vivo
PLoS ONE
Multidisciplinary
PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies
Pediatric Neurology
Child Health
Developmental Neuroscience
Pediatrics
Perinatology
Neurology
Structural Variation of the Human Genome: Mechanisms, Assays, and Role in Male Infertility
Systems Biology in Reproductive Medicine
Reproductive Medicine
Urology
Human NK Cell Deficiency as a Result of Biallelic Mutations in McM10
Mutations in CYP1B1, the Gene for Cytochrome P4501B1, Are the Predominant Cause of Primary Congenital Glaucoma in Saudi Arabia
American Journal of Human Genetics
Genetics
Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy
American Journal of Human Genetics
Genetics
Human Meiotic Recombination Products Revealed by Sequencing a Hotspot for Homologous Strand Exchange in Multiple HNPP Deletion Patients
American Journal of Human Genetics
Genetics
DNA Rearrangements on Both Homologues of Chromosome 17 in a Mildly Delayed Individual With a Family History of Autosomal Dominant Carpal Tunnel Syndrome
American Journal of Human Genetics
Genetics
Oral Curcumin Mitigates the Clinical and Neuropathologic Phenotype of the Trembler-J Mouse: A Potential Therapy for Inherited Neuropathy
American Journal of Human Genetics
Genetics
Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
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