271 results on '"Mulle, Jennifer G."'
Search Results
2. Behavioral Phenotypes and Comorbidity in 3q29 Deletion Syndrome: Results from the 3q29 Registry
3. High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing
4. Psychosis spectrum symptoms among individuals with schizophrenia-associated copy number variants and evidence of cerebellar correlates of symptom severity
5. Harnessing rare variants in neuropsychiatric and neurodevelopment disorders—a Keystone Symposia report
6. Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
7. A framework for the investigation of rare genetic disorders in neuropsychiatry
8. Structural deviations of the posterior fossa and the cerebellum and their cognitive links in a neurodevelopmental deletion syndrome
9. Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons
10. Metabolic effects of the schizophrenia-associated 3q29 deletion
11. Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome
12. Scaled and Efficient Derivation of Loss of Function Alleles in Risk Genes for Neurodevelopmental and Psychiatric Disorders in Human iPSC
13. Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders
14. Author Correction: Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome
15. Caregiver Perspectives on a Childʼs Diagnosis of 3q29 Deletion: “We Canʼt Just Wish This Thing Away”
16. Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk
17. Osteomicrobiology: The influence of gut microbiota on bone in health and disease
18. Cross-species analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion
19. REPLY TO PLÜSS ET AL. : The strength of PEMapper/PECaller lies in unbiased calling using large sample sizes
20. Gastrointestinal Health in Classic Galactosemia
21. Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome
22. PEMapper and PECaller provide a simplified approach to whole-genome sequencing
23. Visual-Motor Integration Deficits in 3q29 Deletion Syndrome
24. Adaptive behavior deficits in individuals with 3q29 deletion syndrome
25. Musculoskeletal phenotypes in 3q29 deletion syndrome
26. Musculoskeletal phenotypes in 3q29 deletion syndrome.
27. Cross-species transcriptomic analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion
28. Additional file 1 of Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome
29. New discoveries in schizophrenia genetics reveal neurobiological pathways: A review of recent findings
30. Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry
31. Powerful and Efficient Strategies for Genetic Association Testing of Symptom and Questionnaire Data in Psychiatric Genetic Studies
32. The clinical phenotype of autism spectrum disorder in individuals with 3q29 deletion syndrome
33. Visual-motor integration deficits in 3q29 deletion syndrome
34. Sex steroid deficiency-associated bone loss is microbiota dependent and prevented by probiotics
35. Mouse model implicates GNB3 duplication in a childhood obesity syndrome
36. Response to Astleyʼs Letter to the Editor
37. Psychosis spectrum symptoms among individuals with schizophrenia-associated copy number variants and evidence of cerebellar correlates of symptom severity
38. Structural deviations of the posterior fossa and the cerebellum and their cognitive links in a neurodevelopmental deletion syndrome
39. Loss-of-function of OTUD7A in the schizophrenia-associated 15q13.3 deletion impairs synapse development and function in human neurons
40. Gastrointestinal Health in Classic Galactosemia
41. Signatures of founder effects, admixture, and selection in the Ashkenazi Jewish population
42. Replication Stress Induces Tumor-Like Microdeletions in FHIT/FRA3B
43. Multi-modal investigation of the schizophrenia-associated 3q29 genomic interval reveals global genetic diversity with unique haplotypes and segments that increase the risk for non-allelic homologous recombination
44. Symptoms of Pediatric Feeding Disorders Among Individuals with 3q29 Deletion Syndrome
45. 57. MODELING THE LOSS-OF-FUNCTION MUTATION OF OTUD7A WITHIN THE SCHIZOPHRENIA-ASSOCIATED 15Q13.3 MICRODELETION IN HUMAN NEURONS
46. A Comparison Among 5 Methods for the Clinical Diagnosis of Fetal Alcohol Spectrum Disorders
47. Novel features of 3q29 deletion syndrome: Results from the 3q29 registry
48. Genome-wide association study of schizophrenia in Ashkenazi Jews
49. Additional file 1 of Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders
50. The Gut Microbiome: A New Frontier in Autism Research
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