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Publications by Carlos A. Bacino
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay
American Journal of Human Genetics
Genetics
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
IRF2BPL Is Associated With Neurological Phenotypes
American Journal of Human Genetics
Genetics
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
American Journal of Human Genetics
Genetics
Recurrent Deletions and Reciprocal Duplications of 10q11.21q11.23 Including CHAT and SLC18A3 Are Likely Mediated by Complex Low-Copy Repeats
Human Mutation
Genetics
Terminal Osseous Dysplasia With Pigmentary Defects (TODPD): Follow-Up of the First Reported Family, Characterization of the Radiological Phenotype, and Refinement of the Linkage Region
American Journal of Medical Genetics, Part A
Genetics
Skin Fibroblasts of Patients With Geleophysic Dysplasia Due to FBN1 Mutations Have Lysosomal Inclusions and Losartan Improves Their Microfibril Deposition Defect
Molecular genetics & genomic medicine
Genetics
Molecular Biology
A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations
Journal of Developmental and Behavioral Pediatrics
Developmental
Mental Health
Child Health
Educational Psychology
Perinatology
Psychiatry
Pediatrics
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