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

Year Number of Results
1954 1
1956 1
1959 2
1960 1
1963 1
1969 1
1985 1
1993 2
1995 1
2005 1
2006 2
2007 2
2008 1
2009 3
2010 3
2011 2
2012 4
2013 5
2014 8
2015 8
2016 6
2017 8
2018 5
2019 7
2020 7
2021 7
2022 8
2023 9
2024 2

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97 results

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Page 1
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. Sheppard SE, et al. Among authors: campo md. Am J Med Genet A. 2021 Jun;185(6):1649-1665. doi: 10.1002/ajmg.a.62124. Epub 2021 Mar 30. Am J Med Genet A. 2021. PMID: 33783954 Free PMC article.
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Holtz AM, VanCoillie R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, Millan F, Person R, Guillen Sacoto MJ, Si Y, Wentzensen IM, Pugh J, Vasileiou G, Rieger M, Reis A, Argilli E, Sherr EH, Aldinger KA, Dobyns WB, Brunet T, Hoefele J, Wagner M, Haber B, Kotzaeridou U, Keren B, Heron D, Mignot C, Heide S, Courtin T, Buratti J, Murugasen S, Donald KA, O'Heir E, Moody S, Kim KH, Burton BK, Yoon G, Campo MD, Masser-Frye D, Kozenko M, Parkinson C, Sell SL, Gordon PL, Prokop JW, Karaa A, Bupp C, Raby BA. Holtz AM, et al. Among authors: campo md. Genet Med. 2022 Oct;24(10):2065-2078. doi: 10.1016/j.gim.2022.07.005. Epub 2022 Aug 18. Genet Med. 2022. PMID: 35980381 Free PMC article.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
[Hemocyanins as immunostimulants].
Del Campo M, Arancibia S, Nova E, Salazar F, González A, Moltedo B, De Ioannes P, Ferreira J, Manubens A, Becker MI. Del Campo M, et al. Rev Med Chil. 2011 Feb;139(2):236-46. Epub 2011 Jul 11. Rev Med Chil. 2011. PMID: 21773663 Free article. Review. Spanish.
Neurodevelopment in Children Exposed to Zika in utero: Clinical and Molecular Aspects.
Schuler-Faccini L, Del Campo M, García-Alix A, Ventura LO, Boquett JA, van der Linden V, Pessoa A, van der Linden Júnior H, Ventura CV, Leal MC, Kowalski TW, Rodrigues Gerzson L, Skilhan de Almeida C, Santi L, Beys-da-Silva WO, Quincozes-Santos A, Guimarães JA, Garcez PP, Gomes JDA, Vianna FSL, Anjos da Silva A, Fraga LR, Vieira Sanseverino MT, Muotri AR, Lopes da Rosa R, Abeche AM, Marcolongo-Pereira C, Souza DO. Schuler-Faccini L, et al. Among authors: del campo m. Front Genet. 2022 Mar 8;13:758715. doi: 10.3389/fgene.2022.758715. eCollection 2022. Front Genet. 2022. PMID: 35350244 Free PMC article. Review.
Secondary physical features in children with FASD.
Del Campo M, Kable JA, Coles CD, Suttie M, Chambers CD, Bandoli G. Del Campo M, et al. Eur J Med Genet. 2024 Feb;67:104890. doi: 10.1016/j.ejmg.2023.104890. Epub 2023 Nov 30. Eur J Med Genet. 2024. PMID: 38042254 Free article.
97 results