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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2021 | 2 |
2022 | 2 |
2023 | 1 |
2024 | 1 |
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6 results
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Page 1
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.
Eur J Hum Genet. 2024 Mar;32(3):350-356. doi: 10.1038/s41431-023-01530-6. Epub 2024 Jan 10.
Eur J Hum Genet. 2024.
PMID: 38200082
Free PMC article.
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
Bodenbender JP, Marino V, Bethge L, Stingl K, Haack TB, Biskup S, Kohl S, Kühlewein L, Dell'Orco D, Weisschuh N.
Bodenbender JP, et al.
Int J Mol Sci. 2023 Jan 31;24(3):2709. doi: 10.3390/ijms24032709.
Int J Mol Sci. 2023.
PMID: 36769033
Free PMC article.
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A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
Reith M, Zeltner L, Schäferhoff K, Witt D, Zuleger T, Haack TB, Bornemann A, Alber M, Ruf S, Schoels L, Stingl K, Weisschuh N.
Reith M, et al.
Int J Mol Sci. 2022 Feb 18;23(4):2271. doi: 10.3390/ijms23042271.
Int J Mol Sci. 2022.
PMID: 35216386
Free PMC article.
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Characterization of cognitive impairment in adult polyglucosan body disease.
Zebhauser PT, Cordts I, Hengel H, Haslinger B, Lingor P, Akman HO, Haack TB, Deschauer M.
Zebhauser PT, et al.
J Neurol. 2022 Jun;269(6):2854-2861. doi: 10.1007/s00415-022-10960-z. Epub 2022 Jan 8.
J Neurol. 2022.
PMID: 34999962
Free PMC article.
Review.
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Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.
Rapp CK, Van Dijck I, Laugwitz L, Boon M, Briassoulis G, Ilia S, Kammer B, Reu S, Hornung S, Buchert R, Sofan L, Froukh T, Witters P, Rymen D, Haack TB, Proesmans M, Griese M.
Rapp CK, et al.
Clin Genet. 2021 Oct;100(4):453-461. doi: 10.1111/cge.14016. Epub 2021 Jul 14.
Clin Genet. 2021.
PMID: 34165204
Review.
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Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.
Weisschuh N, Mazzola P, Bertrand M, Haack TB, Wissinger B, Kohl S, Stingl K.
Weisschuh N, et al.
Int J Mol Sci. 2021 May 20;22(10):5396. doi: 10.3390/ijms22105396.
Int J Mol Sci. 2021.
PMID: 34065499
Free PMC article.
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