1,216 results on '"Amor, David"'
Search Results
52. Gene selection for genomic newborn screening: moving towards consensus?
53. Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)
54. Parents' preferences for receiving and discussing prognostic genetic information regarding their children's neurodevelopmental condition: A qualitative study
55. Correction: CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases
56. Self-Reported Stuttering Severity Is Accurate: Informing Methods for Large-Scale Data Collection in Stuttering
57. Genetics and pediatric hospital admissions, 1985 to 2017
58. Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
59. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
60. Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus
61. Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project
62. De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy
63. Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.
64. Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset
65. Speech and language in children with Klinefelter syndrome
66. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
67. Causation in cerebral palsy: Parental beliefs and associated emotions.
68. Alternative Genetic Diagnoses in Axenfeld–Rieger Syndrome Spectrum
69. An Investigation of Barriers and Enablers for Genetics in Speech-Language Pathology Explored Through a Case Study of Childhood Apraxia of Speech
70. The association between hCG and adverse pregnancy outcomes: a systematic review and meta-analysis
71. Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis
72. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
73. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
74. Human Centromere Repositioning "In Progress"
75. Alcohol consumption in a general antenatal population and child neurodevelopment at 2 years
76. Causation in cerebral palsy: Parental beliefs and associated emotions
77. Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome
78. Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants
79. Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease
80. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
81. Health outcomes of school-aged children conceived using donor sperm
82. Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome
83. Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders
84. FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome
85. Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome
86. Does being conceived by assisted reproductive technology influence adult quality of life?
87. Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation
88. Population Genomic Screening of All Young Adults in a Health-Care System: A Cost-Effectiveness Analysis
89. Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome
90. Genetic Analysis of Patients Who Experienced Awareness with Recall while under General Anesthesia
91. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations
92. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests
93. Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion
94. Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study
95. Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia
96. Der europäische Strombinnenmarkt : die Entstehung, das Konzept und die Herausforderungen durch COVID und dem Russland-Ukraine-Konflikt
97. Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease
98. DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants
99. Correction: Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome
100. Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
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