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A man in his twenties with weakness and numbness in his legs.
Hermansen MV, Kleggetveit IP, Ulvin LB, Chawla MS, König M. Hermansen MV, et al. Among authors: chawla ms. Tidsskr Nor Laegeforen. 2022 Dec 8;142(1). doi: 10.4045/tidsskr.22.0642. Print 2023 Jan 17. Tidsskr Nor Laegeforen. 2022. PMID: 36655972 Free article. English, Norwegian.
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S; Genomics England Research Consortium; Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A, Parker J, Hoskins B, Pressler R, Sudhakar S, DeVile C, Homfray T, Kaliakatsos M; Ponnudas (Prab) Prabhakar; Robinson R, Keim SMB, Habibi I, Reymond A, Sisodiya SM, Hurst JA. Ververi A, et al. Among authors: chawla ms. Hum Mol Genet. 2023 Jan 27;32(4):580-594. doi: 10.1093/hmg/ddac225. Hum Mol Genet. 2023. PMID: 36067010 Free PMC article.
COSMIC: a curated database of somatic variants and clinical data for cancer.
Sondka Z, Dhir NB, Carvalho-Silva D, Jupe S, Madhumita, McLaren K, Starkey M, Ward S, Wilding J, Ahmed M, Argasinska J, Beare D, Chawla MS, Duke S, Fasanella I, Neogi AG, Haller S, Hetenyi B, Hodges L, Holmes A, Lyne R, Maurel T, Nair S, Pedro H, Sangrador-Vegas A, Schuilenburg H, Sheard Z, Yong SY, Teague J. Sondka Z, et al. Among authors: chawla ms. Nucleic Acids Res. 2024 Jan 5;52(D1):D1210-D1217. doi: 10.1093/nar/gkad986. Nucleic Acids Res. 2024. PMID: 38183204 Free PMC article.
30 results