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Results by year

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

Year Number of Results
1975 2
1976 1
1977 2
1979 2
1981 1
1982 1
1983 1
1985 1
1986 1
1987 2
1988 3
1990 3
1991 3
1992 4
1993 7
1994 2
1995 3
1996 7
1997 3
1998 4
1999 5
2000 4
2001 12
2002 4
2003 5
2004 10
2005 2
2006 9
2007 9
2008 16
2009 9
2010 10
2011 17
2012 14
2013 4
2014 9
2015 10
2016 15
2017 17
2018 18
2019 7
2020 13
2021 16
2022 20
2023 17
2024 2

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PubMed for id: 324383

302 results

Results by year

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Page 1
Tethered cord syndrome in KBG syndrome.
Hills S, Pugacheva A, Weltin P, Maughan A, Morton SU, Feldman HA, Klinge PM, Agrawal PB. Hills S, et al. Am J Med Genet A. 2023 May;191(5):1222-1226. doi: 10.1002/ajmg.a.63128. Epub 2023 Feb 1. Am J Med Genet A. 2023. PMID: 36722669
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, Swafiri ST, Lopez-Rodriguez R, Losada-Del Pozo R, Mahillo-Fernandez I, Moreno B, Rodrigo-Moreno M, Casas-Alba D, Lopez-Gonzalez A, García-Miñaúr S, Ángeles Mori M, Pacio-Minguez M, Rikeros-Orozco E, Santos-Simarro F, Cruz-Rojo J, Quesada-Espinosa JF, Sanchez-Calvin MT, Sanchez-Del Pozo J, Bernado Fonz R, Isidoro-Garcia M, Ruiz-Ayucar I, Alvarez-Mora MI, Blanco-Lago R, De Azua B, Eiris J, Garcia-Peñas JJ, Gil-Fournier B, Gomez-Lado C, Irazabal N, Lopez-Gonzalez V, Madrigal I, Malaga I, Martinez-Menendez B, Ramiro-Leon S, Garcia-Hoyos M, Prieto-Matos P, Lopez-Pison J, Aguilera-Albesa S, Alvarez S, Fernández-Jaén A, Llano-Rivas I, Gener-Querol B, Ayuso C, Arteche-Lopez A, Palomares-Bralo M, Cueto-González A, Valenzuela I, Martinez-Monseny A, Lorda-Sanchez I, Almoguera B. Martinez-Cayuelas E, et al. J Med Genet. 2023 Jul;60(7):644-654. doi: 10.1136/jmg-2022-108632. Epub 2022 Nov 29. J Med Genet. 2023. PMID: 36446582
[Congenital neutropenia type IV: case report].
Peruffo MV, Nainsztein G, Salvaneschi Quiña V, Samaruga C, Cuello MF, Romano S, Caferri H. Peruffo MV, et al. Arch Argent Pediatr. 2022 Oct;120(5):e213-e217. doi: 10.5546/aap.2022.e213. Epub 2022 Aug 30. Arch Argent Pediatr. 2022. PMID: 36190223 Free article. Spanish.
302 results