Michael J. Friez
Affiliations: | Genetics and Biochemistry | Clemson University, Clemson, SC, United States |
Area:
Genetics, Bioinformatics BiologyGoogle:
"Michael Friez"Mean distance: (not calculated yet)
BETA: Related publications
See more...
Publications
|
You can help our author matching system! If you notice any publications incorrectly attributed to this author, please sign in and mark matches as correct or incorrect. |
| Montanaro FAM, Mandarino A, Alesi V, et al. (2024) gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports. Frontiers in Psychiatry. 14: 1327802 |
| Gehin C, Lone MA, Lee W, et al. (2023) CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. The Journal of Clinical Investigation |
| Schwartz CE, Louie RJ, Toutain A, et al. (2022) X-Linked intellectual disability update 2022. American Journal of Medical Genetics. Part A |
| Cooley Coleman JA, Fee T, Bend R, et al. (2022) Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome. American Journal of Medical Genetics. Part A |
| Fang X, Butler KM, Abidi F, et al. (2022) Analysis of X-inactivation status in a Rett syndrome natural history study cohort. Molecular Genetics & Genomic Medicine. e1917 |
| Wang J, Foroutan A, Richardson E, et al. (2022) Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711. European Journal of Human Genetics : Ejhg |
| Mikhael S, Dugar S, Morton M, et al. (2021) Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome. Human Genetics |
| Fang X, Butler K, Abidi F, et al. (2021) Analysis of X-inactivation status in a Rett syndrome natural history study cohort Molecular Genetics and Metabolism. 132: S239 |
| Mohrien C, Schwartz C, Friez M, et al. (2021) KDM5C gene variant and non-syndromic X-linked intellectual disability: an updated case report Molecular Genetics and Metabolism. 132: S195 |
| Ziats CA, Patterson WG, Friez M. (2020) Syndromic Autism Revisited: Review of the Literature and Lessons Learned. Pediatric Neurology. 114: 21-25 |