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Results by year

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

Year Number of Results
1946 1
1971 1
1975 2
1976 1
1978 2
1981 2
1982 2
1983 2
1984 4
1985 1
1986 2
1987 4
1989 1
1990 1
1992 2
1993 1
1994 3
1995 6
1996 1
1997 2
1998 2
1999 1
2000 3
2001 2
2002 4
2003 4
2004 3
2005 2
2006 5
2007 3
2008 3
2009 6
2011 2
2012 1
2024 0

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Article type

Publication date

PubMed (OMIM) for id: 2218

79 results

Results by year

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Page 1
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF. Bell CJ, et al. Sci Transl Med. 2011 Jan 12;3(65):65ra4. doi: 10.1126/scitranslmed.3001756. Sci Transl Med. 2011. PMID: 21228398 Free PMC article.
Congenital encephalo-ophthalmic dysplasia.
KRAUSE AC. KRAUSE AC. Arch Ophthal. 1946 Oct;36(4):387-44. doi: 10.1001/archopht.1946.00890210395001. Arch Ophthal. 1946. PMID: 21002031 No abstract available.
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E. Mercuri E, et al. Neurology. 2009 May 26;72(21):1802-9. doi: 10.1212/01.wnl.0000346518.68110.60. Epub 2009 Mar 18. Neurology. 2009. PMID: 19299310
Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.
Vuillaumier-Barrot S, Quijano-Roy S, Bouchet-Seraphin C, Maugenre S, Peudenier S, Van den Bergh P, Marcorelles P, Avila-Smirnow D, Chelbi M, Romero NB, Carlier RY, Estournet B, Guicheney P, Seta N. Vuillaumier-Barrot S, et al. Neuromuscul Disord. 2009 Mar;19(3):182-8. doi: 10.1016/j.nmd.2008.12.005. Neuromuscul Disord. 2009. PMID: 19179078
Muscular dystrophies due to glycosylation defects.
Muntoni F, Torelli S, Brockington M. Muntoni F, et al. Neurotherapeutics. 2008 Oct;5(4):627-32. doi: 10.1016/j.nurt.2008.08.005. Neurotherapeutics. 2008. PMID: 19019316 Free PMC article. Review.
79 results