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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1980 1
1987 1
1989 1
1990 1
1992 3
1993 4
1994 4
1995 4
1996 3
1997 1
1998 1
1999 10
2000 7
2001 6
2002 6
2003 3
2004 7
2005 12
2006 5
2007 8
2008 15
2009 12
2010 12
2011 7
2012 15
2013 11
2014 12
2015 19
2016 31
2017 27
2018 39
2019 43
2020 38
2021 39
2022 31
2023 41
2024 30

Text availability

Article attribute

Article type

Publication date

PubMed for id: 477139

441 results

Results by year

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Page 1
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
Fetta A, Toni F, Pettenuzzo I, Ricci E, Rocca A, Gambi C, Soliani L, Di Pisa V, Martini S, Sperti G, Cagnazzo V, Accorsi P, Bartolini E, Battaglia D, Bernardo P, Canevini MP, Ferrari AR, Giordano L, Locatelli C, Mancardi M, Orsini A, Pippucci T, Pruna D, Rosati A, Suppiej A, Tagliani S, Vaisfeld A, Vignoli A, Izumi K, Krantz I, Cordelli DM. Fetta A, et al. Orphanet J Rare Dis. 2024 Mar 8;19(1):107. doi: 10.1186/s13023-024-03065-5. Orphanet J Rare Dis. 2024. PMID: 38459574 Free PMC article. Review.
SMC1A epilepsy syndrome: clinical data from a large international cohort.
Gibellato E, Cianci P, Mariani M, Parma B, Huisman S, Śmigiel R, Bisgaard AM, Massa V, Gervasini C, Moretti A, Cattoni A, Biondi A, Selicorni A. Gibellato E, et al. Am J Med Genet A. 2024 Jul;194(7):e63577. doi: 10.1002/ajmg.a.63577. Epub 2024 Feb 29. Am J Med Genet A. 2024. PMID: 38421079
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P, Kaur N, Mascarenhas S, Rao LP, Pande S, Narayanan DL, Bhat V, Nayak SS, Nair KV, Prasannakumar AP, Chaurasia A, Hunakunti B, Jadhav N, Farooqui S, Yeole M, Kothiwale V, Naik R, Bhat V, Aroor S, Lewis L, Purkayastha J, Bhat YR, Praveen BK, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Siddiqui S, Bielas S, Girisha KM, Sharma S, Shukla A. Majethia P, et al. Clin Genet. 2024 Jun;105(6):639-654. doi: 10.1111/cge.14495. Epub 2024 Feb 19. Clin Genet. 2024. PMID: 38374498 Free PMC article.
Early life seizures and epileptic spasms in STXBP1-related disorders.
Thalwitzer KM, Xian J, de Campo D, Parthasarathy S, Magielski J, Sullivan KR, Goss J, Rigby CS, Boland M, Prosser B, Ruggiero SM, Syrbe S, Helbig I. Thalwitzer KM, et al. Epilepsia. 2024 Mar;65(3):805-816. doi: 10.1111/epi.17886. Epub 2024 Jan 27. Epilepsia. 2024. PMID: 38279907
Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy.
Lenge M, Balestrini S, Napolitano A, Mei D, Conti V, Baldassarri G, Trivisano M, Pellacani S, Macconi L, Longo D, Rossi Espagnet MC, Cappelletti S; PCDH19 Clinical Study Group; D'Incerti L, Barba C, Specchio N, Guerrini R. Lenge M, et al. Transl Psychiatry. 2024 Jan 18;14(1):35. doi: 10.1038/s41398-024-02753-x. Transl Psychiatry. 2024. PMID: 38238304 Free PMC article.
441 results