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3. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

6. Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population

7. Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population

9. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

12. Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

17. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

18. Genomic and phenotypic delineation of congenital microcephaly

19. Targeted next-generation sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations

21. Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans

22. Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia

23. P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies*

24. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

25. Cover Image, Volume 39, Issue 1

30. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

32. Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans

34. Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy

36. Autism traits in individuals with agenesis of the corpus callosum

38. ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection.

39. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

40. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

41. De novo mutations in epileptic encephalopathies

44. Newborn screening for neurodevelopmental diseases: Are we there yet?

45. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

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