19 results on '"Holder Jr, J. Lloyd"'
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2. Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers
3. An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function
4. A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability
5. SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits
6. Social behavioral impairments in SYNGAP1-related intellectual disability.
7. Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression
8. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
9. Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations
10. SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties
11. Two de novo novel mutations in one <italic>SHANK3</italic> allele in a patient with autism and moderate intellectual disability.
12. Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them.
13. Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27
14. TBC1D24 genotype-phenotype correlation.
15. Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
16. Sim1 gene dosage modulates the homeostatic feeding response to increased dietary fat in mice.
17. Sleep Abnormalities in the Synaptopathies— SYNGAP1 -Related Intellectual Disability and Phelan–McDermid Syndrome.
18. Infantile Spasms and Hyperekplexia Associated With Isolated Sulfite Oxidase Deficiency.
19. Profound obesity associated with a balanced translocation that disrupts the SIM1 gene.
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