486 results on '"Wilkie, Andrew O. M."'
Search Results
52. Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis
53. Recessive omodysplasia: five new cases and review of the literature
54. Efficient use of a ‘dead‐end’ GA 5′ splice site in the human fibroblast growth factor receptor genes
55. Genetics of craniofacial development and malformation
56. Craniosynostosis and Related Limb Anomalies
57. ROR2 and Brachydactyly Type B and Recessive Robinow Syndrome
58. FGF Receptor Mutations: Bone Dysplasia, Craniosynostosis, and Other Syndromes
59. EFNB1 and EFNA4 in Craniofrontonasal Syndrome and Craniosynostosis
60. Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay
61. New germline syndrome with brainstem abnormalities and neuroblastoma, caused by ALK mutation
62. The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms
63. amplimap: a versatile tool to process and analyze targeted NGS data
64. ATR-16 syndrome: mechanisms linking monosomy to phenotype
65. Developmental disorders
66. Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis
67. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.
68. Fibroblast growth factor receptor mutations and craniosynostosis: Three receptors, five syndromes
69. Genetic aspects of birth defects: new understandings of old problems
70. Genetic mapping of Xp22.12–p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL)
71. Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies
72. Alx4 and Msx2 play phenotypically similar and additive roles in skull vault differentiation
73. Evidence for Selective Advantage of Pathogenic FGFR2 Mutations in the Male Germ Line
74. Why study human limb malformations?
75. Mutational Analysis in X-Linked Spondyloepiphyseal Dysplasia Tarda*
76. Dissection of contiguous gene effects for deletions around ERF on chromosome 19.
77. ‘Sifting the significance from the data’ - the impact of high-throughput genomic technologies on human genetics and health care
78. amplimap: a versatile tool to process and analyze targeted NGS data
79. The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors
80. Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis
81. ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome
82. Unexpected role of SIX1variants in craniosynostosis: expanding the phenotype of SIX1-related disorders
83. Biallelic GINS2variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis
84. Epidermal mosaicism producing localised acne: somatic mutation in FGFR2
85. Neurodevelopmental, Cognitive, and Psychosocial Outcomes for Individuals With Pathogenic Variants in the TCF12 Gene and Associated Craniosynostosis.
86. The genetics of mental retardation
87. Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families
88. HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
89. Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome
90. Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome
91. Feeding, Communication, Hydrocephalus, and Intracranial Hypertension in Patients With Severe FGFR2-Associated Pfeiffer Syndrome.
92. Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline
93. Implications for the Multi-Disciplinary Management of Children With Craniofrontonasal Syndrome.
94. Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function
95. Diagnostic value of exome and whole genome sequencing in craniosynostosis
96. HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients
97. Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability
98. Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia
99. Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn
100. Many faces of SMCHD1
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