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

Year Number of Results
1964 2
1966 3
1967 1
1970 2
1972 2
1973 1
1974 1
1975 1
1976 1
1977 2
1978 2
1979 2
1982 2
1984 1
1990 1
1996 1
1999 2
2001 2
2002 2
2003 2
2004 1
2005 2
2006 6
2007 3
2008 2
2010 1
2011 1
2012 2
2013 1
2014 1
2015 1
2018 1
2024 0

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52 results

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Page 1
Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.
Kutkowska-Kaźmierczak A, Rydzanicz M, Chlebowski A, Kłosowska-Kosicka K, Mika A, Gruchota J, Jurkiewicz E, Kowalewski C, Pollak A, Stradomska TJ, Kmieć T, Jakubowski R, Gasperowicz P, Walczak A, Śladowski D, Jankowska-Steifer E, Korniszewski L, Kosińska J, Obersztyn E, Nowak W, Śledziński T, Dziembowski A, Płoski R. Kutkowska-Kaźmierczak A, et al. Among authors: korniszewski l. J Med Genet. 2018 Jun;55(6):408-414. doi: 10.1136/jmedgenet-2017-105172. Epub 2018 Mar 1. J Med Genet. 2018. PMID: 29496980
Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.
Bartnik M, Nowakowska B, Derwińska K, Wiśniowiecka-Kowalnik B, Kędzior M, Bernaciak J, Ziemkiewicz K, Gambin T, Sykulski M, Bezniakow N, Korniszewski L, Kutkowska-Kaźmierczak A, Klapecki J, Szczałuba K, Shaw CA, Mazurczak T, Gambin A, Obersztyn E, Bocian E, Stankiewicz P. Bartnik M, et al. Among authors: korniszewski l. J Appl Genet. 2014 Feb;55(1):125-44. doi: 10.1007/s13353-013-0181-x. Epub 2013 Dec 3. J Appl Genet. 2014. PMID: 24297458 Free PMC article.
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter.
Iwanowski PS, Panasiuk B, Van Buggenhout G, Murdolo M, Myśliwiec M, Maas NM, Lattante S, Korniszewski L, Posmyk R, Pilch J, Zajączek S, Fryns JP, Zollino M, Midro AT. Iwanowski PS, et al. Among authors: korniszewski l. Am J Med Genet A. 2011 Aug;155A(8):1833-47. doi: 10.1002/ajmg.a.34005. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744486
Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype.
Iwanicka-Pronicka K, Pollak A, Skórka A, Lechowicz U, Pajdowska M, Furmanek M, Rzeski M, Korniszewski L, Skarżyński H, Płoski R. Iwanicka-Pronicka K, et al. Among authors: korniszewski l. PLoS One. 2012;7(10):e44054. doi: 10.1371/journal.pone.0044054. Epub 2012 Oct 25. PLoS One. 2012. PMID: 23133508 Free PMC article.
52 results