Arthur S. Aylsworth
Affiliations: | Pediatrics | UNC School of Medicine |
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| Shapira SK, Tian LH, Aylsworth AS, et al. (2019) A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development. Journal of Autism and Developmental Disorders |
| Aylsworth AS, Allori AC, Pimenta LA, et al. (2015) Issues involved in the phenotypic classification of orofacial clefts ascertained through a state birth defects registry for the north carolina cleft outcomes study. Birth Defects Research. Part a, Clinical and Molecular Teratology |
| Bronicki LM, Redin C, Drunat S, et al. (2015) Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. European Journal of Human Genetics : Ejhg |
| Parrott A, James J, Goldenberg P, et al. (2015) Aortopathy in the 7q11.23 microduplication syndrome. American Journal of Medical Genetics. Part A. 167: 363-70 |
| Curry CJ, Rosenfeld JA, Grant E, et al. (2013) The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. American Journal of Medical Genetics. Part A. 161: 1833-52 |
| Cushion TD, Dobyns WB, Mullins JGL, et al. (2013) Overlapping cortical malformations and mutations in TUBB2B and TUBA1A Brain. 136: 536-548 |
| Montgomery ND, Turcott CM, Tepperberg JH, et al. (2013) A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia. American Journal of Medical Genetics. Part A. 161: 198-202 |
| Ballif BC, Rosenfeld JA, Traylor R, et al. (2012) High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. Human Genetics. 131: 145-56 |
| Korbel JO, Tirosh-Wagner T, Urban AE, et al. (2009) The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proceedings of the National Academy of Sciences of the United States of America. 106: 12031-6 |
| Kranz C, Basinger AA, Güçsava?-Caliko?lu M, et al. (2007) Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. American Journal of Medical Genetics. Part A. 143: 1371-8 |