329 results on '"Sherr, Elliott"'
Search Results
2. Vasopressin deficiency: a hypothesized driver of both social impairment and fluid imbalance in autism spectrum disorder
3. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
4. Diverse childhood neurologic disorders and outcomes following fetal neurologic consultation
5. De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities
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
8. The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders
9. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
10. Whole-exome sequencing with targeted analysis and epilepsy after acute symptomatic neonatal seizures
11. Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders
12. Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
13. Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region
14. Abnormal Auditory Mismatch Fields in Children and Adolescents With 16p11.2 Deletion and 16p11.2 Duplication
15. Altered structural connectivity networks in a mouse model of complete and partial dysgenesis of the corpus callosum
16. Autism-associated biomarkers: test–retest reliability and relationship to quantitative social trait variation in rhesus monkeys
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
20. Integrated stress response inhibition provides sex-dependent protection against noise-induced cochlear synaptopathy
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
26. Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction
27. The structural connectome of the human brain in agenesis of the corpus callosum
28. Epileptic Encephalopathies: New Genes and New Pathways
29. Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication
30. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities
31. Microstructural correlations of white matter tracts in the human brain
32. Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans
33. Individuals With Agenesis of the Corpus Callosum Show Sensory Processing Differences as Measured by the Sensory Profile
34. Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy
35. Mammalian Myosin Iα, Iβ, and Iγ: New Widely Expressed Genes of the Myosin I Family
36. Autism traits in individuals with agenesis of the corpus callosum
37. Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes
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
42. Neurodevelopmental disorders and genetic testing: Current approaches and future advances
43. Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption
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
46. VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans
47. Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene
48. Identification of genomic loci contributing to agenesis of the corpus callosum
49. Agenesis of the corpus callosum in California 1983-2003: A population-based study
50. Hematopoietic stem cell transplantation for the treatment of childhood cerebral X-linked adrenoleukodystrophy
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