文章名稱引用次數

• Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling13
• A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing8
• An Overview of Modelling Craniosynostosis Using the Finite Element Method8
• Genetic Causes of Craniosynostosis: An Update7
• Structural Genome Variations Related to Craniosynostosis5
• A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review5
• Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication4
• Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature4
• Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review4
• Novel Mutations and Unreported Clinical Features in KBG Syndrome4