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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.
Effects of nutrition therapy on growth, inflammation and metabolism in immature infants: a study protocol of a double-blind randomized controlled trial (ImNuT).
Wendel K, Pfeiffer HCV, Fugelseth DM, Nestaas E, Domellöf M, Skålhegg BS, Elgstøen KBP, Rootwelt H, Pettersen RD, Pripp AH, Stiris T, Moltu SJ; ImNuT Collaboration Group. Wendel K, et al. BMC Pediatr. 2021 Jan 7;21(1):19. doi: 10.1186/s12887-020-02425-x. BMC Pediatr. 2021. PMID: 33407269 Free PMC article.
Arachidonic and docosahexaenoic acid supplementation and brain maturation in preterm infants; a double blind RCT.
Moltu SJ, Nordvik T, Rossholt ME, Wendel K, Chawla M, Server A, Gunnarsdottir G, Pripp AH, Domellöf M, Bratlie M, Aas M, Hüppi PS, Lapillonne A, Beyer MK, Stiris T, Maximov II, Geier O, Pfeiffer H. Moltu SJ, et al. Clin Nutr. 2024 Jan;43(1):176-186. doi: 10.1016/j.clnu.2023.11.037. Epub 2023 Nov 29. Clin Nutr. 2024. PMID: 38061271 Free article. Clinical Trial.
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.
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.
Effects of a Technology-Assisted Integrated Diabetes Care Program on Cardiometabolic Risk Factors Among Patients With Type 2 Diabetes in the Asia-Pacific Region: The JADE Program Randomized Clinical Trial.
Lim LL, Lau ESH, Fu AWC, Ray S, Hung YJ, Tan ATB, Chamnan P, Sheu WHH, Chawla MS, Chia YC, Chuang LM, Nguyen DC, Sosale A, Saboo BD, Phadke U, Kesavadev J, Goh SY, Gera N, Huyen Vu TT, Ma RCW, Lau V, Luk AOY, Kong APS, Chan JCN; Asia-Pacific JADE Study Group. Lim LL, et al. Among authors: chawla ms. JAMA Netw Open. 2021 Apr 1;4(4):e217557. doi: 10.1001/jamanetworkopen.2021.7557. JAMA Netw Open. 2021. PMID: 33929522 Free PMC article. Clinical Trial.
31 results