1. Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders;Human Mutation;2020-07-15
2. Skin;Pathology of Childhood and Adolescence;2020
3. Neu-Laxova Syndrome;Obstetric Imaging: Fetal Diagnosis and Care;2018
4. Neu-Laxova Syndrome;Atlas of Genetic Diagnosis and Counseling;2017
5. Neu-Laxova Syndrome;Atlas of Genetic Diagnosis and Counseling;2016