The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex
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Citations
Cites
Cited by
The Tuberous Sclerosis Complex
Crino, P. B., Nathanson, K. L., & Henske, E. P. (2006) · New England Journal of Medicine · doi:10.1056/nejmra055323 · Cited by 1,793
Reversal of learning deficits in a Tsc2+/− mouse model of tuberous sclerosis
Ehninger, D., Han, S., Shilyansky, C., Zhou, Y., Li, W., Kwiatkowski, D. J., Ramesh, V., & Silva, A. J. (2008) · Nature Medicine · doi:10.1038/nm1788 · Cited by 882
Franz, D. N., Belousova, E., Sparagana, S., Bebin, E. M., Frost, M., Kuperman, R., Witt, O., Kohrman, M. H., Flamini, J. R., Wu, J. Y., et al. (2013) · The Lancet · doi:10.1016/s0140-6736(12)61134-9 · Cited by 794
Neurological and neuropsychiatric aspects of tuberous sclerosis complex
Curatolo, P., Moavero, R., & de Vries, P. J. (2015) · The Lancet Neurology · doi:10.1016/s1474-4422(15)00069-1 · Cited by 600
Au, K. S., Williams, A. T., Roach, E. S., Batchelor, L., Sparagana, S. P., Delgado, M. R., Wheless, J. W., Baumgartner, J. E., Roa, B. B., Wilson, C. M., et al. (2007) · Genetics in Medicine · doi:10.1097/gim.0b013e31803068c7 · Cited by 458
Metadata
- Authors
- Sancak, O., Nellist, M., Goedbloed, M., Elfferich, P., Wouters, C., Maat-Kievit, A., Zonnenberg, B., Verhoef, S., Halley, D., & van den Ouweland, A.
- Venue
- European Journal of Human Genetics
- Published
- 2005-03-30
- Volume
- 13
- Issue
- 6
- Pages
- 731-741
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- OpenAlex
- W1982992093
- Cited by
- 483
- References
- 1
- FWCI
- 11.68
- Type
- journal article
- Language
- en
- Open access
- closed
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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- CoChat. (2026). Citation check: Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. https://app.cochat.ai/papers/10.1038/sj.ejhg.5201402
- The paper
- Sancak, O., Nellist, M., Goedbloed, M., Elfferich, P., Wouters, C., Maat-Kievit, A., Zonnenberg, B., Verhoef, S., Halley, D., & van den Ouweland, A. (2005). Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. European Journal of Human Genetics. https://doi.org/10.1038/sj.ejhg.5201402
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
