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24 results on '"Roberts, Amy E."'

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1. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

4. Hypertrophic Cardiomyopathy in RASopathies

5. In Memoriam

6. Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

7. Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects

8. Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents

9. Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene

10. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

11. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

13. Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young

16. Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

18. Noonan syndrome

21. Novel presentation of Omenn syndrome in association with aniridia

22. TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

23. TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

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