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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V; Deciphering Developmental Disorders Study; Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG; Genomics England Research Consortium; Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H; NIHR BioResource; Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M; Undiagnosed Diseases Network; Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D… See abstract for full author list ➔ Cif L, et al. Among authors: pal s. Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. Brain. 2020. PMID: 33150406 Free PMC article.
Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature.
Mascarenhas S, Yeole M, Rao LP, do Rosario MC, Majethia P, Nair KV, Sharma S, Barala PK, Puri RD, Pal S, Siddiqui S, Shukla A. Mascarenhas S, et al. Among authors: pal s. Clin Dysmorphol. 2024 Oct 1;33(4):160-166. doi: 10.1097/MCD.0000000000000490. Epub 2024 Jul 16. Clin Dysmorphol. 2024. PMID: 39140381 Review.
Cardiovascular risk assessment using non-laboratory based WHO CVD risk prediction chart with respect to hypertension status among older Indian adults: insights from nationally representative survey.
Mamgai A, Halder P, Behera A, Goel K, Pal S, Amudhamozhi KS, Sharma D, Kiran T. Mamgai A, et al. Among authors: pal s. Front Public Health. 2024 Sep 5;12:1407918. doi: 10.3389/fpubh.2024.1407918. eCollection 2024. Front Public Health. 2024. PMID: 39301516 Free PMC article.
4,591 results