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Publications by David Valle
Mobile Interspersed Repeats Are Major Structural Variants in the Human Genome
Cell
Biochemistry
Genetics
Molecular Biology
GeneMatcher Aids in the Identification of a New Malformation Syndrome With Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants inHNRNPK
Human Mutation
Genetics
Functional Variants in DPYSL2 Sequence Increase Risk of Schizophrenia and Suggest a Link to mTOR Signaling
G3: Genes, Genomes, Genetics
Medicine
Genetics
Molecular Biology
A Detailed Analysis of Methylmalonic Acid Kinetics During Hemodialysis and After Combined Liver/Kidney Transplantation in a Patient With Mut 0 Methylmalonic Acidemia
Journal of Inherited Metabolic Disease
Genetics
Neuregulin 3 Knockout Mice Exhibit Behaviors Consistent With Psychotic Disorders
Molecular Neuropsychiatry
Neonatal Cholestasis as Initial Manifestation of Type 2 Gaucher Disease: A Continuum in the Spectrum of Early Onset Gaucher Disease
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Recurrent 10q22-Q23 Deletions: A Genomic Disorder on 10q Associated With Cognitive and Behavioral Abnormalities
American Journal of Human Genetics
Genetics
Functional Consequences of PRODH Missense Mutations
American Journal of Human Genetics
Genetics
Expression ofPEX11β Mediates Peroxisome Proliferation in the Absence of Extracellular Stimuli
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
Cloning, Characterization, and Expression of cDNAs Encoding Human -Pyrroline-5-Carboxylate Dehydrogenase
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
