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203 results

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Page 1
Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
Hebbar M, Al-Taweel N, Gill I, Boelman C, Dean RA, Goodchild SJ, Mezeyova J, Shuart NG, Johnson JP, Lee J, Michoulas A, Huh LL, Armstrong L, Connolly MB, Demos MK. Hebbar M, et al. Res Sq [Preprint]. 2023 Aug 8:rs.3.rs-3221902. doi: 10.21203/rs.3.rs-3221902/v1. Res Sq. 2023. PMID: 37609289 Free PMC article. Updated. Preprint.
Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
Hebbar M, Al-Taweel N, Gill I, Boelman C, Dean RA, Goodchild SJ, Mezeyova J, Shuart NG, Johnson JP Jr, Lee J, Michoulas A, Huh LL, Armstrong L, Connolly MB, Demos MK. Hebbar M, et al. BMC Neurol. 2024 Jan 17;24(1):31. doi: 10.1186/s12883-023-03478-y. BMC Neurol. 2024. PMID: 38233770 Free PMC article.
Effectiveness and safety of COVID-19 vaccines on maternal and perinatal outcomes: a systematic review and meta-analysis.
Fernández-García S, Del Campo-Albendea L, Sambamoorthi D, Sheikh J, Lau K, Osei-Lah N, Ramkumar A, Naidu H, Stoney N, Sundaram P, Sengupta P, Mehta S, Attarde S, Maddock S, Manning M, Meherally Z, Ansari K, Lawson H, Yap M, Kew T, Punnoose A, Knight C, Sadeqa E, Cherian J, Ravi S, Chen W, Walker K, O'Donoghue K, van Wely M, van Leeuwen E, Kostova E, Kunst H, Khalil A, Brizuela V, Kara E, Kim CR, Thorson A, Oladapo OT, Mofenson L, Gottlieb SL, Bonet M, Moss N, Zamora J, Allotey J, Thangaratinam S; PregCOV-19 Living Systematic Review Consortium. Fernández-García S, et al. BMJ Glob Health. 2024 Apr 4;9(4):e014247. doi: 10.1136/bmjgh-2023-014247. BMJ Glob Health. 2024. PMID: 38580375 Free PMC article.
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Werren EA, LaForce GR, Srivastava A, Perillo DR, Li S, Johnson K, Baris S, Berger B, Regan SL, Pfennig CD, de Munnik S, Pfundt R, Hebbar M, Jimenez-Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles EJ, Louie RJ, Lebel RR, Le TL, Amiel J, Gordon CT, Boztug K, Girisha KM, Shukla A, Bielas SL, Schaffer AE. Werren EA, et al. Among authors: hebbar m. Nat Commun. 2024 Feb 22;15(1):1640. doi: 10.1038/s41467-024-45948-y. Nat Commun. 2024. PMID: 38388531 Free PMC article.
Assessing variation in complications and outcomes of diabetic ketoacidosis management in the United Kingdom: a multicentre quality improvement initiative.
Mounouchos S, Hebbar M, Kauser-Malik S, Soghal S, Needs C, Tabasum M, Ahmed N, Panneerselvam H, Nizza J, Karamat M. Mounouchos S, et al. Among authors: hebbar m. Clin Med (Lond). 2023 Nov;23(Suppl 6):98. doi: 10.7861/clinmed.23-6-s98. Clin Med (Lond). 2023. PMID: 38182218 Free PMC article. No abstract available.
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.
LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Galey M, Goffena J, Gibson SB, Allan TJ, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel N, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Hubshman MW, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT; Undiagnosed Diseases Network; Neale G, Carvill GL; University of Washington Center for Rare Disease Research; Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC. LaFlamme CW, et al. Among authors: hebbar m. medRxiv [Preprint]. 2023 Oct 12:2023.10.11.23296741. doi: 10.1101/2023.10.11.23296741. medRxiv. 2023. PMID: 37873138 Free PMC article. Preprint.
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.
Werren E, LaForce G, Srivastava A, Perillo D, Johnson K, Berger B, Regan S, Pfennig C, Baris S, de Munnik S, Pfundt R, Hebbar M, Jimenez Heredia R, Karakoc-Aydiner E, Ozen A, Dmytrus J, Krolo A, Corning K, Prijoles E, Louie R, Lebel R, Le TL, Amiel J, Gordon C, Boztug K, Girisha K, Shukla A, Bielas S, Schaffer A. Werren E, et al. Among authors: hebbar m. Res Sq [Preprint]. 2023 Sep 6:rs.3.rs-2126145. doi: 10.21203/rs.3.rs-2126145/v1. Res Sq. 2023. PMID: 37720017 Free PMC article. Updated. Preprint.
203 results