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

Year Number of Results
1928 1
1933 1
1942 1
1968 1
1969 1
1970 2
1974 2
1975 1
1976 1
1977 2
1978 5
1980 2
1981 6
1982 6
1983 6
1984 9
1985 4
1986 5
1987 6
1988 3
1989 2
1990 5
1991 1
1992 1
1993 5
1994 3
1995 2
1996 1
1997 2
1998 4
1999 5
2000 3
2001 3
2002 1
2003 1
2004 2
2005 6
2007 2
2008 4
2009 6
2010 3
2011 4
2012 6
2013 4
2014 4
2015 4
2016 3
2017 2
2018 2
2019 4
2020 5
2021 5
2022 2
2023 2
2024 2
2025 1

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168 results

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Page 1
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Palmer EE, Pusch M, Picollo A, Forwood C, Nguyen MH, Suckow V, Gibbons J, Hoff A, Sigfrid L, Megarbane A, Nizon M, Cogné B, Beneteau C, Alkuraya FS, Chedrawi A, Hashem MO, Stamberger H, Weckhuysen S, Vanlander A, Ceulemans B, Rajagopalan S, Nunn K, Arpin S, Raynaud M, Motter CS, Ward-Melver C, Janssens K, Meuwissen M, Beysen D, Dikow N, Grimmel M, Haack TB, Clement E, McTague A, Hunt D, Townshend S, Ward M, Richards LJ, Simons C, Costain G, Dupuis L, Mendoza-Londono R, Dudding-Byth T, Boyle J, Saunders C, Fleming E, El Chehadeh S, Spitz MA, Piton A, Gerard B, Abi Warde MT, Rea G, McKenna C, Douzgou S, Banka S, Akman C, Bain JM, Sands TT, Wilson GN, Silvertooth EJ, Miller L, Lederer D, Sachdev R, Macintosh R, Monestier O, Karadurmus D, Collins F, Carter M, Rohena L, Willemsen MH, Ockeloen CW, Pfundt R, Kroft SD, Field M, Laranjeira FER, Fortuna AM, Soares AR, Michaud V, Naudion S, Golla S, Weaver DD, Bird LM, Friedman J, Clowes V, Joss S, Pölsler L, Campeau PM, Blazo M, Bijlsma EK, Rosenfeld JA, Beetz C, Powis Z, McWalter K, Brandt T, Torti E, Mathot M, Mohammad SS, Armstrong R, Kalscheuer VM. Palmer EE, et al. Among authors: weaver dd. Mol Psychiatry. 2023 Feb;28(2):668-697. doi: 10.1038/s41380-022-01852-9. Epub 2022 Nov 16. Mol Psychiatry. 2023. PMID: 36385166 Free PMC article.
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.
Savarirayan R, Irving M, Harmatz P, Delgado B, Wilcox WR, Philips J, Owen N, Bacino CA, Tofts L, Charrow J, Polgreen LE, Hoover-Fong J, Arundel P, Ginebreda I, Saal HM, Basel D, Font RU, Ozono K, Bober MB, Cormier-Daire V, Le Quan Sang KH, Baujat G, Alanay Y, Rutsch F, Hoernschemeyer D, Mohnike K, Mochizuki H, Tajima A, Kotani Y, Weaver DD, White KK, Army C, Larrimore K, Gregg K, Jeha G, Milligan C, Fisheleva E, Huntsman-Labed A, Day J. Savarirayan R, et al. Among authors: weaver dd. Genet Med. 2022 Dec;24(12):2444-2452. doi: 10.1016/j.gim.2022.08.015. Epub 2022 Sep 16. Genet Med. 2022. PMID: 36107167 Free article.
Multiple pterygium syndrome.
Escobar V, Bixler D, Gleiser S, Weaver DD, Gibbs T. Escobar V, et al. Among authors: weaver dd. Am J Dis Child. 1978 Jun;132(6):609-11. doi: 10.1001/archpedi.1978.02120310073016. Am J Dis Child. 1978. PMID: 655146
Response to Hamosh et al.
Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM Jr, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. Biesecker LG, et al. Among authors: weaver dd. Am J Hum Genet. 2021 Sep 2;108(9):1809-1810. doi: 10.1016/j.ajhg.2021.07.006. Am J Hum Genet. 2021. PMID: 34478656 Free PMC article. No abstract available.
Leucocyte-alkaline-phosphatase isoenzymes.
Weaver DD, Lyons RB. Weaver DD, et al. Lancet. 1968 Jun 1;1(7553):1196-7. doi: 10.1016/s0140-6736(68)91891-6. Lancet. 1968. PMID: 4172301 No abstract available.
The neurofibromatosis-Noonan syndrome.
Opitz JM, Weaver DD. Opitz JM, et al. Among authors: weaver dd. Am J Med Genet. 1985 Jul;21(3):477-90. doi: 10.1002/ajmg.1320210310. Am J Med Genet. 1985. PMID: 3927726 No abstract available.
Mutations in EZH2 cause Weaver syndrome.
Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R, Mungall AJ, Eydoux P, Babul-Hirji R, An J, Marra MA; FORGE Canada Consortium; Chitayat D, Boycott KM, Weaver DD, Jones SJ. Gibson WT, et al. Among authors: weaver dd. Am J Hum Genet. 2012 Jan 13;90(1):110-8. doi: 10.1016/j.ajhg.2011.11.018. Epub 2011 Dec 15. Am J Hum Genet. 2012. PMID: 22177091 Free PMC article.
Benign hereditary chorea.
Wheeler PG, Weaver DD, Dobyns WB. Wheeler PG, et al. Among authors: weaver dd. Pediatr Neurol. 1993 Sep-Oct;9(5):337-40. doi: 10.1016/0887-8994(93)90101-h. Pediatr Neurol. 1993. PMID: 8292207 Review.
168 results