1,216 results on '"Amor, David"'
Search Results
2. Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer‐specific survival
3. Perinatal outcomes after a prenatal diagnosis of a fetal copy number variant: a retrospective population-based cohort study
4. The value of genomic testing in severe childhood speech disorders
5. Fostering Hope and Acknowledging Uncertainty: Meeting Parents’ Needs and Preferences When Communicating Prognosis in Genetic Neurodevelopmental Conditions
6. The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia
7. Commentary: “Pediatric cardiomyopathy illustrates the importance of reinterpreting the significance of genetic variants”
8. Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants
9. The Mendelian disorders of chromatin machinery: Harnessing metabolic pathways and therapies for treatment
10. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
11. CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases
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. Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder
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. The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia
19. Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development
20. Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
21. To speak may draw on epigenetic writing and reading: Unravelling the complexity of speech and language outcomes across chromatin-related neurodevelopmental disorders
22. Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development
23. The impact of coding germline variants on contralateral breast cancer risk and survival
24. Social and physical predictors of mental health impact in adult women who have an FMR1 premutation
25. Statistical analysis of observational studies in disability research
26. Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments
27. Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders
28. Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
29. Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
30. Reproductive function in men conceived with in vitro fertilization and intracytoplasmic sperm injection
31. Speech and language in DDX3X‐neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.
32. Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol
33. Hypotonic cerebral palsy
34. De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay
35. Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations
36. Review for "Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication"
37. Genetic Counselling
38. Speech and language deficits are central to SETBP1 haploinsufficiency disorder
39. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
40. ESTRATEGIAS, HERRAMIENTAS DIGITALES Y BUENAS PRÁCTICAS PARA LA ADAPTACIÓN DE LA DOCENCIA EN EL ÁREA DE CIENCIAS E INGENIERÍA EN LOS TIEMPOS DE COVID-19
41. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
42. Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
43. Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
44. Exploring the Speech and Language of Individuals with Non-Syndromic Submucous Cleft Palate: A Preliminary Report
45. The Foetus
46. Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome
47. Intellectual disability: A potentially treatable condition.
48. Parents' preferences for receiving and discussing prognostic genetic information regarding their children's neurodevelopmental condition: A qualitative study.
49. Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
50. Exome and genome sequencing in litigation
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