Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Alan H. Beggs
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
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results From the BabySeq Project
American Journal of Human Genetics
Genetics
IRF2BPL Is Associated With Neurological Phenotypes
American Journal of Human Genetics
Genetics
The Genetic Landscape of Diamond-Blackfan Anemia
American Journal of Human Genetics
Genetics
The Genetic Landscape of Diamond-Blackfan Anemia
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
KBTBD13 Is an Actin-Binding Protein That Modulates Muscle Kinetics
Journal of Clinical Investigation
Medicine
Challenging the Current Recommendations for Carrier Testing in Children
Pediatrics
Child Health
Pediatrics
Perinatology
Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project
Pediatrics
Child Health
Pediatrics
Perinatology
1
2
›
