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24 results on '"Sarah E. Sheppard"'

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1. Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

2. Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization

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3. Congenital polyvalvular disease expands the cardiac phenotype of the <scp>RASopathies</scp>

4. Misdiagnosis of capillary malformations in darker skin phototypes

5. Genetic skin disorders: The value of a multidisciplinary clinic

6. Hyperinsulinism in an individual with an <scp> EP300 </scp> variant of <scp>Rubinstein‐Taybi</scp> syndrome

7. Heterozygous recurrent <scp> HNF4A </scp> variant p. <scp>Arg85Trp</scp> causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas

8. Androgenetic chimerism as an etiology for Beckwith–Wiedemann syndrome: diagnosis and management

9. Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

10. Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines

11. Expanded phenotypic spectrum of JAG1-associated diseases: central conducting lymphatic anomaly with a pathogenic variant in JAG1

12. Kaposiform lymphangiomatosis effectively treated with MEK inhibition

13. Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features

14. Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

15. Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss

16. Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

17. Case 2: Severe Hyperammonemia in a Neonate: An Alternate Ending

18. Generalized, severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation

19. Muenke syndrome: Medical and surgical comorbidities and long‐term management

20. Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm

21. Implementation of telemedicine-based pediatric genetics care at the Children’s Hospital of Philadelphia

22. What’s New with 22q? An update from the 22q and You Center at the Children’s Hospital of Philadelphia

23. A Novel VPS33B Mutation Causing a Mild Phenotype of Arthrogryposis, Renal dysfunction, and Cholestasis Syndrome