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Publications by May Christine V. Malicdan
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 TMEM94 Truncating Variants Are Associated With Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
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
Neurologic Involvement in Patients With Atypical Chediak-Higashi Disease
Neurology
Neurology
Cover Image, Volume 38, Issue 10
Human Mutation
Genetics
Clinical and Molecular Phenotyping of a Child With Hermansky-Pudlak Syndrome-7, an Uncommon Genetic Type of HPS
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
NPC1 Deficiency in Mice Is Associated With Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology
Journal of Clinical Medicine
