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Publications by Thomas C. Markello
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
Bi-Allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global 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
Cover Image, Volume 38, Issue 10
Human Mutation
Genetics
Novel 47.5-Kb Deletion in RAB27A Results in Severe Griscelli Syndrome Type 2
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Combined Alpha-Delta Platelet Storage Pool Deficiency Is Associated With Mutations in GFI1B
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Alveolar Macrophage Dysregulation in Hermansky-Pudlak Syndrome Type 1
American Journal of Respiratory and Critical Care Medicine
Pulmonary
Critical Care
Respiratory Medicine
Intensive Care Medicine
