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2. Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer‐specific survival

6. The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia

8. Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants

10. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

13. Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

15. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

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

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

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

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

37. Genetic Counselling

39. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

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

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.

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