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Page 1
Fetal Alcohol Spectrum Disorders.
Pereira EM. Pereira EM. Pediatr Rev. 2024 May 1;45(5):303-304. doi: 10.1542/pir.2023-006038. Pediatr Rev. 2024. PMID: 38689104 Review. No abstract available.
Physical Activity at Different Life Stages and Its Consequence on the Initial Immunization and Inflammatory Response Against COVID-19.
Rossi PAQ, Gomes R, Nascimento Salazar TCD, Lustosa Barros EM, Vasconcelos S, da Silva AS, Pereira EM, Melo VB, Fonseca MHG, Teixeira CR, Furtado GP, Pontes LQ, Khouri R, Vasconcelos B, Almeida SS, Werneck GL, Rossi FE, Santos MAPD. Rossi PAQ, et al. Among authors: pereira em. J Phys Act Health. 2024 Apr 24:1-9. doi: 10.1123/jpah.2023-0370. Online ahead of print. J Phys Act Health. 2024. PMID: 38663845
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.
Ma M, Ganapathi M, Zheng Y, Tan KL, Kanca O, Bove KE, Quintanilla N, Sag SO, Temel SG, LeDuc CA, McPartland AJ, Pereira EM, Shen Y, Hagen J, Thomas CP, Nguyen Galván NT, Pan X, Lu S, Rosenfeld JA, Calame DG, Wangler MF, Lupski JR, Pehlivan D, Hertel PM, Chung WK, Bellen HJ. Ma M, et al. Among authors: pereira em. Genet Med. 2024 Mar 21;26(7):101125. doi: 10.1016/j.gim.2024.101125. Online ahead of print. Genet Med. 2024. PMID: 38522068
Trisomy 21.
Pereira EM. Pereira EM. Pediatr Rev. 2024 Feb 1;45(2):116-117. doi: 10.1542/pir.2022-005887. Pediatr Rev. 2024. PMID: 38296776 No abstract available.
Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, Chatron N, Dainelli A, De Wachter M, Denommé-Pichon AS, Dye TJ, Fazzi E, Felt R, Fernández-Jaén A, Fernández-Prieto M, Gantz E, Gasperowicz P, Gil-Nagel A, Gómez-Andrés D, Greiner HM, Guerrini R, Haanpää MK, Helin M, Hoyer J, Hurst ACE, Kallish S, Karkare SN, Khan A, Kleinendorst L, Koch J, Kothare SV, Koudijs SM, Lagae L, Lakeman P, Leppig KA, Lesca G, Lopergolo D, Lusk L, Mackenzie A, Mei D, Møller RS, Pereira EM, Platzer K, Quelin C, Revah-Politi A, Rheims S, Rodríguez-Palmero A, Rossi A, Santorelli F, Seinfeld S, Sell E, Stephenson D, Szczaluba K, Trinka E, Umair M, Van Esch H, van Haelst MM, Veenma DCM, Weber S, Weckhuysen S, Zacher P, Tümer Z, Rubboli G. Kassabian B, et al. Among authors: pereira em. Epilepsia. 2024 Apr;65(4):1029-1045. doi: 10.1111/epi.17876. Epub 2024 Feb 29. Epilepsia. 2024. PMID: 38135915
163 results