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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. Among authors: chawla m. 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.
Tackling inequalities in preconception health and care: barriers, facilitators and recommendations for action from the 2023 UK preconception EMCR network conference.
Schoenaker D, Hall J, Stewart C, Hanley SJ, Cassinelli EH, Benton M, Wynn-Jones AA, Chawla M, Currie S; 2023 UK Preconception EMCR Network conference workshop participants. Schoenaker D, et al. Among authors: chawla m. J Dev Orig Health Dis. 2024 Oct 24;15:e24. doi: 10.1017/S204017442400031X. J Dev Orig Health Dis. 2024. PMID: 39444318
Empyema necessitans.
Menon A, Wisa D, Zhan C, Chawla M, Kalchiem-Dekel O. Menon A, et al. Among authors: chawla m. Respirol Case Rep. 2024 Aug 15;12(8):e01393. doi: 10.1002/rcr2.1393. eCollection 2024 Aug. Respirol Case Rep. 2024. PMID: 39148628 Free PMC article.
334 results