Isabelle Schrauwen, Ph.D.
Affiliations: | 2010 | Universiteit Antwerpen (Belgium) |
Area:
Audiology, EpidemiologyGoogle:
"Isabelle Schrauwen"Parents
Sign in to add mentor| Vincent Timmerman | grad student | 2010 | Universiteit Antwerpen (Belgium) | |
| (The search for genes in complex diseases: A story of otosclerosis.) | ||||
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Publications
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| Salokivi T, Parkkola R, Rajendran Y, et al. (2023) A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria. American Journal of Medical Genetics. Part A |
| Malik MA, Saqib MAN, Mientjes E, et al. (2023) A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome. European Journal of Human Genetics : Ejhg |
| Bilal M, Khan H, Khan MJ, et al. (2023) Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly. European Journal of Human Genetics : Ejhg |
| Liaqat K, Bharadwaj T, Shah K, et al. (2023) Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment. Clinical Genetics |
| Hussain A, Acharya A, Bharadwaj T, et al. (2023) A Novel Variant in Underlying Cohen Syndrome. Biomed Research International. 2023: 9993801 |
| Faridi R, Yousaf R, Gu S, et al. (2023) Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy. Clinical Genetics |
| Cornejo-Sanchez DM, Li G, Fabiha T, et al. (2023) Rare-variant association analysis reveals known and new age-related hearing loss genes. European Journal of Human Genetics : Ejhg |
| Tavernier LJM, Vanpoucke T, Schrauwen I, et al. (2022) Targeted Resequencing of Otosclerosis Patients from Different Populations Replicates Results from a Previous Genome-Wide Association Study. Journal of Clinical Medicine. 11 |
| Adadey SM, Aboagye ET, Esoh K, et al. (2022) A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana. Bmc Medical Genomics. 15: 237 |
| Schrauwen I, Ghaffar A, Bharadwaj T, et al. (2022) Syntaxin 4 is essential for hearing in human and zebrafish. Human Molecular Genetics |