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

Year Number of Results
2002 2
2003 2
2004 1
2006 1
2009 1
2010 3
2011 5
2012 5
2013 4
2014 1
2015 3
2016 6
2017 4
2018 5
2019 6
2020 12
2021 9
2022 4
2023 2
2024 2

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63 results

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Page 1
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study; Klee EW, Lefebvre V, Clark KJ, Depienne C. Zawerton A, et al. Among authors: russell l. Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3. Genet Med. 2020. PMID: 31578471 Free PMC article.
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.
Mendes MI, Green LMC, Bertini E, Tonduti D, Aiello C, Smith D, Salsano E, Beerepoot S, Hertecant J, von Spiczak S, Livingston JH, Emrick L, Fraser J, Russell L, Bernard G, Magri S, Di Bella D, Taroni F, Koenig MK, Moroni I, Cappuccio G, Brunetti-Pierri N, Rhee J, Mendelsohn BA, Helbig I, Helbig K, Muhle H, Ismayl O, Vanderver AL, Salomons GS, van der Knaap MS, Wolf NI. Mendes MI, et al. Among authors: russell l. Ann Clin Transl Neurol. 2020 Jan;7(1):83-93. doi: 10.1002/acn3.50960. Epub 2019 Dec 8. Ann Clin Transl Neurol. 2020. PMID: 31814314 Free PMC article.
Estimation of the burden of tinea capitis among children in Africa.
Bongomin F, Olum R, Nsenga L, Namusobya M, Russell L, de Sousa E, Osaigbovo II, Kwizera R, Baluku JB. Bongomin F, et al. Among authors: russell l. Mycoses. 2021 Apr;64(4):349-363. doi: 10.1111/myc.13221. Epub 2020 Dec 9. Mycoses. 2021. PMID: 33251631 Review.
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
Thomas-Wilson A, Schacht JP, Chitayat D, Blaser S, Santos FJR, Glaser K, Caffo A, Wentzensen IM, Henderson LB, Zhang F, Zhu Y, Di Corleto E, da Silva Costa F, Vink R, Alkhunaizi E, Russell L, Buckley MF, Roscioli T, Pereira EM, Ganapathi M. Thomas-Wilson A, et al. Among authors: russell l. Am J Med Genet A. 2023 Jul;191(7):1935-1941. doi: 10.1002/ajmg.a.63203. Epub 2023 Apr 9. Am J Med Genet A. 2023. PMID: 37031378 Review.
Databases for Congenital Heart Defect Public Health Studies Across the Lifespan.
Riehle-Colarusso TJ, Bergersen L, Broberg CS, Cassell CH, Gray DT, Grosse SD, Jacobs JP, Jacobs ML, Kirby RS, Kochilas L, Krishnaswamy A, Marelli A, Pasquali SK, Wood T, Oster ME; Congenital Heart Public Health Consortium. Riehle-Colarusso TJ, et al. J Am Heart Assoc. 2016 Oct 26;5(11):e004148. doi: 10.1161/JAHA.116.004148. J Am Heart Assoc. 2016. PMID: 27912209 Free PMC article. Review. No abstract available.
Isolated bilateral congenital lacrimal gland agenesis-a case series.
Alghazawi N, Modabber M, Darwich R, Saskin A, Russell L, Saint-Martin C, Khan A. Alghazawi N, et al. Among authors: russell l. J AAPOS. 2021 Apr;25(2):109-112.e1. doi: 10.1016/j.jaapos.2020.11.008. Epub 2021 Feb 16. J AAPOS. 2021. PMID: 33601047
63 results