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39 results on '"Alissa M. D'Gama"'

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1. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes

2. The spectrum of movement disorders in young children with ARX‐related epilepsy‐dyskinesia syndrome

3. Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions

4. Integrating rapid exome sequencing into NICU clinical care after a pilot research study

5. Brain somatic mosaicism in epilepsy: Bringing results back to the clinic

6. Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency

7. Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias

9. The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing

10. A model to implement genomic medicine in the neonatal intensive care unit

11. Exome sequencing identifies novel missense and deletion variants in <scp> RTN4IP1 </scp> associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis

12. Somatic Mosaicism and Autism Spectrum Disorder

13. Novel SPEG mutations in congenital myopathies

14. Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations

15. Clinical outcomes of pediatric patients with autism spectrum disorder and other neurodevelopmental disorders and intracranial germ cell tumors

16. The Landscape of Mutational Mosaicism in Autistic and Normal Human Cerebral Cortex

17. Focal cortical dysplasia

18. Contributors

19. Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency

20. Atypical presentations associated with non‐polyalanine repeat PHOX2B mutations

21. Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective

22. Biallelic mutations in human DCC cause developmental split-brain syndrome

23. A phenotypically severe, biochemically 'silent' case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing

24. A novel missense mutation inTFAP2Bassociated with Char syndrome and central diabetes insipidus

25. Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing

26. GCT-37. PREVALENCE OF AUTISM SPECTRUM DISORDER AND OTHER NEURODEVELOPMENTAL DISORDERS IN PEDIATRIC PATIENTS WITH INTRACRANIAL GERM CELL TUMORS

27. Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

28. Novel

29. Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies

30. Somatic mosaicism and neurodevelopmental disease

31. Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms

32. Somatic mutation in single human neurons tracks developmental and transcriptional history

33. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia

34. Somatic mutations activating the mTOR pathway in dorsal telencephalic progenitors cause a continuum of cortical dysplasias

35. Somatic Mutations in Cerebral Cortical Malformations

36. Somatic Mosaicism and Neurological Diseases

37. List of Contributors

38. Using whole-exome sequencing to identify inherited causes of autism

39. Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study

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