Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

690 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Pelizaeus-Merzbacher disease: classical or connatal?
Scheffer IE, Baraitser M, Wilson J, Harding B, Kendall B, Brett EM. Scheffer IE, et al. Neuropediatrics. 1991 May;22(2):71-8. doi: 10.1055/s-2008-1071420. Neuropediatrics. 1991. PMID: 1857497
Angelman's syndrome.
Scheffer I, Brett EM, Wilson J, Baraitser M. Scheffer I, et al. J Med Genet. 1990 Apr;27(4):275-7. doi: 10.1136/jmg.27.4.275-a. J Med Genet. 1990. PMID: 2325111 Free PMC article. No abstract available.
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.
Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, Moncla A, Scheffer IE, Guerrini R. Cardoso C, et al. Among authors: scheffer ie. Neurology. 2009 Mar 3;72(9):784-92. doi: 10.1212/01.wnl.0000336339.08878.2d. Epub 2008 Dec 10. Neurology. 2009. PMID: 19073947
Milder phenotypes of glucose transporter type 1 deficiency syndrome.
Anand G, Padeniya A, Hanrahan D, Scheffer H, Zaiwalla Z, Cox D, Mann N, Hewertson J, Price S, Nemeth A, Arsov T, Scheffer I, Jayawant S, Pike M, McShane T. Anand G, et al. Dev Med Child Neurol. 2011 Jul;53(7):664-8. doi: 10.1111/j.1469-8749.2011.03949.x. Epub 2011 Mar 24. Dev Med Child Neurol. 2011. PMID: 21649651 Free article.
The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy.
Brunklaus A, Dorris L, Ellis R, Reavey E, Lee E, Forbes G, Appleton R, Cross JH, Ferrie C, Hughes I, Jollands A, King MD, Livingston J, Lynch B, Philip S, Scheffer IE, Williams R, Zuberi SM. Brunklaus A, et al. Among authors: scheffer ie. Dev Med Child Neurol. 2013 Feb;55(2):154-161. doi: 10.1111/dmcn.12030. Epub 2012 Nov 20. Dev Med Child Neurol. 2013. PMID: 23163885 Free article.
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
Jaffer F, Avbersek A, Vavassori R, Fons C, Campistol J, Stagnaro M, De Grandis E, Veneselli E, Rosewich H, Gianotta M, Zucca C, Ragona F, Granata T, Nardocci N, Mikati M, Helseth AR, Boelman C, Minassian BA, Johns S, Garry SI, Scheffer IE, Gourfinkel-An I, Carrilho I, Aylett SE, Parton M, Hanna MG, Houlden H, Neville B, Kurian MA, Novy J, Sander JW, Lambiase PD, Behr ER, Schyns T, Arzimanoglou A, Cross JH, Kaski JP, Sisodiya SM. Jaffer F, et al. Among authors: scheffer ie. Brain. 2015 Oct;138(Pt 10):2859-74. doi: 10.1093/brain/awv243. Epub 2015 Aug 21. Brain. 2015. PMID: 26297560 Free PMC article.
690 results