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Publications by Brendan H. Lee
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
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
Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
American Journal of Human Genetics
Genetics
MicroRNA miR-23a Cluster Promotes Osteocyte Differentiation by Regulating TGF-β Signalling in Osteoblasts
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
P3h3-Null and Sc65-Null Mice Phenocopy the Collagen Lysine Under-Hydroxylation and Cross-Linking Abnormality of Ehlers-Danlos Syndrome Type Via
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
De Novo EIF2AK1 and EIF2AK2 Variants Are Associated With Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
