Dilek Colak, Ph.D.
Affiliations: | 2000 | Ohio State University, Columbus, Columbus, OH |
Area:
Electronics and Electrical Engineering, Marine and Ocean EngineeringGoogle:
"Dilek Colak"Parents
Sign in to add mentor| Edward H. Newman | grad student | 2000 | Ohio State | |
| (The multiple sweep method of moments (MSMM) analysis of three dimensional radiation and scattering problems.) | ||||
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Publications
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| Al-Muhaizea MA, AlQuait L, AlRasheed A, et al. (2020) Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome. Neuromuscular Disorders : Nmd |
| Aldosary M, Al-Bakheet A, Al-Dhalaan H, et al. (2020) Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways. Omics : a Journal of Integrative Biology |
| Stephen J, Maddirevula S, Nampoothiri S, et al. (2018) Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. American Journal of Human Genetics. 103: 948-967 |
| Al-Muhaizea MA, AlMutairi F, Almass R, et al. (2017) A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature. Cerebellum (London, England) |
| Patel N, Shamseldin HE, Sakati N, et al. (2017) GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome. American Journal of Human Genetics. 100: 831-836 |
| Shinwari ZMA, Almesned A, Alakhfash A, et al. (2017) The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation. Cardiology. 137: 188-192 |
| Al-Hassnan ZN, Al-Dosary M, Alfadhel M, et al. (2015) ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. Journal of Medical Genetics. 52: 186-94 |
| Faqeih EA, Al-Owain M, Colak D, et al. (2014) Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly. American Journal of Medical Genetics. Part A. 164: 1565-70 |
| AlBakheet A, Qari A, Colak D, et al. (2013) A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV. Gene. 526: 464-6 |
| Awad S, Al-Dosari MS, Al-Yacoub N, et al. (2013) Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. Human Molecular Genetics. 22: 2200-13 |