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Publications by Marcia Ferguson
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
Related publications
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
American Journal of Human Genetics
Genetics
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
De Novo Truncating Variants in PHF21A Cause Intellectual Disability and Craniofacial Anomalies
European Journal of Human Genetics
Genetics
Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
Filippi Syndrome: A New Case With Skeletal Abnormalities.
Journal of Medical Genetics
Genetics
A New Dysmorphic Syndrome With Cns, Renal and Skeletal Abnormalities
Pediatric Research
Child Health
Pediatrics
Perinatology
An Intellectual Disability Syndrome With Single-Nucleotide Variants in O-GlcNAc Transferase
European Journal of Human Genetics
Genetics
P569 Dejerine-Sottas Syndrome and Cranio-Facial Dysmorphisms: A Case Report
