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Publications by Michael J. Friez

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias

American Journal of Human Genetics

English

Biallelic Deletions of the Waardenburg II Syndrome Gene, SOX10 , Cause a Recognizable Arthrogryposis Syndrome

American Journal of Medical Genetics, Part A

English

Natural History of Christianson Syndrome

American Journal of Medical Genetics, Part A

English