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

Year Number of Results
1947 1
1949 1
1950 1
1977 2
1978 1
1982 1
1983 1
1985 2
1986 4
1987 4
1988 4
1989 4
1991 4
1992 3
1993 3
1994 2
1995 2
1997 3
1998 1
1999 1
2000 2
2001 1
2002 1
2003 1
2007 2
2008 2
2009 2
2010 2
2011 2
2012 3
2024 1
2025 0

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63 results

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Page 1
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.
Houdayer C, Phillips AM, Chabbert M, Bourreau J, Maroofian R, Houlden H, Richards K, Saadi NW, Dad'ová E, Van Bogaert P, Rupin M, Keren B, Charles P, Smol T, Riquet A, Pais L, O'Donnell-Luria A, VanNoy GE, Bayat A, Møller RS, Olofsson K, Abou Jamra R, Syrbe S, Dasouki M, Seaver LH, Sullivan JA, Shashi V, Alkuraya FS, Poss AF, Spence JE, Schnur RE, Forster IC, Mckenzie CE, Simons C, Wang M, Snell P, Kothur K, Buckley M, Roscioli T, Elserafy N, Dauriat B, Procaccio V, Henrion D, Lenaers G, Colin E, Verbeek NE, Van Gassen KL, Legendre C, Bonneau D, Reid CA, Howell KB, Ziegler A, Legros C. Houdayer C, et al. Among authors: spence je. medRxiv [Preprint]. 2024 Mar 22:2024.03.19.24303984. doi: 10.1101/2024.03.19.24303984. medRxiv. 2024. PMID: 38562733 Free PMC article. Preprint.
Tracheomalacia in Hallermann-Streiff syndrome.
Salbert BA, Stevens CA, Spence JE. Salbert BA, et al. Among authors: spence je. Am J Med Genet. 1991 Dec 15;41(4):521-3. doi: 10.1002/ajmg.1320410429. Am J Med Genet. 1991. PMID: 1776648 Review.
Anovulation and monophasic cycles.
Spence JE. Spence JE. Ann N Y Acad Sci. 1997 Jun 17;816:173-6. doi: 10.1111/j.1749-6632.1997.tb52141.x. Ann N Y Acad Sci. 1997. PMID: 9238267 Review.
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, Carmany EP, Stockton DW, Schnur RE, Penney LS, Martin DM, Raskin S, Leppig K, Thiese H, Smith R, Aberg E, Niyazov DM, Escobar LF, El-Khechen D, Johnson KD, Lebel RR, Siefkas K, Ball S, Shur N, McGuire M, Brasington CK, Spence JE, Martin LS, Clericuzio C, Ballif BC, Shaffer LG, Eichler EE. Girirajan S, et al. Among authors: spence je. N Engl J Med. 2012 Oct 4;367(14):1321-31. doi: 10.1056/NEJMoa1200395. Epub 2012 Sep 12. N Engl J Med. 2012. PMID: 22970919 Free PMC article.
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.
Rosenfeld JA, Leppig K, Ballif BC, Thiese H, Erdie-Lalena C, Bawle E, Sastry S, Spence JE, Bandholz A, Surti U, Zonana J, Keller K, Meschino W, Bejjani BA, Torchia BS, Shaffer LG. Rosenfeld JA, et al. Among authors: spence je. Genet Med. 2009 Nov;11(11):797-805. doi: 10.1097/GIM.0b013e3181bd38a9. Genet Med. 2009. PMID: 19938247 Free article.
63 results