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Publications by Stephen R.F. Twigg

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

American Journal of Human Genetics
Genetics
2019English

Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene

American Journal of Human Genetics
Genetics
2009English

The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males

American Journal of Human Genetics
Genetics
2006English

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