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2023 236
2024 367

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PubMed for id: 1684142

500 results

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Page 1
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.
Levy T, Gluckman J, Siper PM, Halpern D, Zweifach J, Filip-Dhima R, Holder JL Jr, Trelles MP, Johnson K, Bernstein JA, Berry-Kravis E, Powell CM, Soorya LV, Thurm A, Buxbaum JD, Sahin M, Kolevzon A, Srivastava S; Developmental Synaptopathies Consortium. Levy T, et al. J Neurodev Disord. 2024 May 10;16(1):25. doi: 10.1186/s11689-024-09541-0. J Neurodev Disord. 2024. PMID: 38730350 Free PMC article.
Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations.
Graziani L, Nuovo S, Pisaneschi E, Carriero ML, Baghernajad Salehi L, Nardone AM, Manganaro L, Novelli A, D'Apice MR, Mappa I, Novelli G. Graziani L, et al. J Matern Fetal Neonatal Med. 2024 Dec;37(1):2344718. doi: 10.1080/14767058.2024.2344718. Epub 2024 Apr 28. J Matern Fetal Neonatal Med. 2024. PMID: 38679587 Free article.
Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
Sartorelli J, Travaglini L, Macchiaiolo M, Garone G, Gonfiantini MV, Vecchio D, Sinibaldi L, Frascarelli F, Ceccatelli V, Petrillo S, Piemonte F, Piccolo G, Novelli A, Longo D, Pro S, D'Amico A, Bertini ES, Nicita F. Sartorelli J, et al. Genes (Basel). 2024 Apr 18;15(4):508. doi: 10.3390/genes15040508. Genes (Basel). 2024. PMID: 38674442 Free PMC article.
500 results