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Publications by Kristine K. Bachman
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
American Journal of Human Genetics
Genetics
Related publications
De Novo Truncating Variants in PHF21A Cause Intellectual Disability and Craniofacial Anomalies
European Journal of Human Genetics
Genetics
De novoPHIPpredicted Deleterious Variants Are Associated With Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features
Cold Spring Harbor molecular case studies
Biochemistry
Molecular Medicine
Genetics
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
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
Heterozygous Loss-Of-Function Variants of MEIS2 Cause a Triad of Palatal Defects, Congenital Heart Defects, and Intellectual Disability
European Journal of Human Genetics
Genetics
Intellectual Disability and Dysmorphic Features in Male Siblings Arising From a Novel TAF1 Mutation
Congenital Anomalies
Child Health
Pediatrics
Perinatology
Medicine
Developmental Biology
Embryology
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
MED13L-related Intellectual Disability: Involvement of Missense Variants and Delineation of the Phenotype
Neurogenetics
Molecular Neuroscience
Genetics
Cellular
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
