Judit Horvath, Ph.D.
Affiliations: | 2006 | Semmelweis Egyetem, Hungary |
Area:
Pathology, Genetics, Medicine and SurgeryGoogle:
"Judit Horvath"Parents
Sign in to add mentor| Gyorgy Fekete | grad student | 2006 | Semmelweis Egyetem | |
| (Identification of the DNAL1 gene and development of a novel genetic based diagnostic method in primary ciliary dyskinesia.) | ||||
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Publications
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| Rehkämper J, Tewes AC, Horvath J, et al. (2017) Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization. Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation |
| Loges NT, Olbrich H, Fenske L, et al. (2008) DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. American Journal of Human Genetics. 83: 547-58 |
| Zariwala MA, Leigh MW, Ceppa F, et al. (2006) Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. American Journal of Respiratory and Critical Care Medicine. 174: 858-66 |
| Hornef N, Olbrich H, Horvath J, et al. (2006) DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. American Journal of Respiratory and Critical Care Medicine. 174: 120-6 |
| Sass JO, Mohr V, Olbrich H, et al. (2006) Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism American Journal of Human Genetics. 78: 401-409 |
| Horváth J, Fliegauf M, Olbrich H, et al. (2005) Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients. American Journal of Respiratory Cell and Molecular Biology. 33: 41-7 |
| Fliegauf M, Fröhlich C, Horvath J, et al. (2003) Identification of the human CYS1 gene and candidate gene analysis in Boichis disease. Pediatric Nephrology (Berlin, Germany). 18: 498-505 |