Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Roos van der Donk
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
American Journal of Human Genetics
Genetics
Related publications
Variants in PUS7 Cause Intellectual Disability With Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior
American Journal of Human Genetics
Genetics
De Novo Truncating Variants in PHF21A Cause Intellectual Disability and Craniofacial Anomalies
European 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
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated With Mild Dysmorphism
American Journal of Human Genetics
Genetics
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated With Mild Dysmorphism
American Journal of Human Genetics
Genetics
TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome
American Journal of Human Genetics
Genetics
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability
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
