997 results on '"Amor, David J."'
Search Results
2. The value of genomic testing in severe childhood speech disorders
3. Perinatal outcomes after a prenatal diagnosis of a fetal copy number variant: a retrospective population-based cohort study
4. Fostering Hope and Acknowledging Uncertainty: Meeting Parents’ Needs and Preferences When Communicating Prognosis in Genetic Neurodevelopmental Conditions
5. The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia
6. Commentary: “Pediatric cardiomyopathy illustrates the importance of reinterpreting the significance of genetic variants”
7. CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases
8. The Mendelian disorders of chromatin machinery: Harnessing metabolic pathways and therapies for treatment
9. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
10. Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder
11. The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia
12. Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature
13. Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
14. Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development
15. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
16. The association between human chorionic gonadotropin and adverse pregnancy outcomes: a systematic review and meta-analysis
17. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
18. Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
19. Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development
20. To speak may draw on epigenetic writing and reading: Unravelling the complexity of speech and language outcomes across chromatin-related neurodevelopmental disorders
21. Social and physical predictors of mental health impact in adult women who have an FMR1 premutation
22. Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments
23. Statistical analysis of observational studies in disability research
24. Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol
25. Hypotonic cerebral palsy
26. Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders
27. Reproductive function in men conceived with in vitro fertilization and intracytoplasmic sperm injection
28. Speech and language in DDX3X‐neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.
29. Intellectual disability: A potentially treatable condition.
30. Parents' preferences for receiving and discussing prognostic genetic information regarding their children's neurodevelopmental condition: A qualitative study.
31. De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
32. Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations
33. Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals
34. Gene selection for genomic newborn screening: moving towards consensus?
35. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
36. Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
37. Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
38. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
39. Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome
40. Exploring the Speech and Language of Individuals with Non-Syndromic Submucous Cleft Palate: A Preliminary Report
41. Revealing hidden genetic diagnoses in the ocular anterior segment disorders
42. Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)
43. Parents' preferences for receiving and discussing prognostic genetic information regarding their children's neurodevelopmental condition: A qualitative study
44. Correction: CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases
45. Self-Reported Stuttering Severity Is Accurate: Informing Methods for Large-Scale Data Collection in Stuttering
46. Alternative Genetic Diagnoses in Axenfeld–Rieger Syndrome Spectrum
47. Genetics and pediatric hospital admissions, 1985 to 2017
48. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
49. Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus
50. Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project
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