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

Year Number of Results
1982 3
1983 3
1984 2
1986 2
1987 3
1988 3
1989 3
1990 1
1991 7
1992 9
1993 20
1994 10
1995 8
1996 4
1997 8
1998 7
1999 11
2000 6
2001 7
2002 8
2003 7
2004 6
2005 11
2006 10
2007 3
2008 4
2009 9
2010 10
2011 6
2012 15
2013 8
2014 14
2015 4
2016 6
2017 3
2018 4
2019 4
2020 6
2021 7
2022 5
2023 3
2024 8

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260 results

Results by year

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Page 1
STAC3 Disorder.
Webb BD, Manoli I, Jabs EW. Webb BD, et al. Among authors: jabs ew. 2019 Jun 20. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2019 Jun 20. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 31219695 Free Books & Documents. Review.
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P. Dodd DO, et al. Among authors: jabs ew. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826 Free PMC article.
ESCO2 Spectrum Disorder.
Vega H, Gordillo M, Jabs EW. Vega H, et al. Among authors: jabs ew. 2006 Apr 18 [updated 2020 Mar 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2006 Apr 18 [updated 2020 Mar 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301332 Free Books & Documents. Review.
Treacher Collins Syndrome.
Barbosa M, Jabs EW, Huston S. Barbosa M, et al. Among authors: jabs ew. 2004 Jul 20 [updated 2024 Jun 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2004 Jul 20 [updated 2024 Jun 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301704 Free Books & Documents. Review.
Dear old dad.
Glaser RL, Jabs EW. Glaser RL, et al. Among authors: jabs ew. Sci Aging Knowledge Environ. 2004 Jan 21;2004(3):re1. doi: 10.1126/sageke.2004.3.re1. Sci Aging Knowledge Environ. 2004. PMID: 14736914 Review.
Cleft Palate in Apert Syndrome.
Willie D, Holmes G, Jabs EW, Wu M. Willie D, et al. Among authors: jabs ew. J Dev Biol. 2022 Aug 11;10(3):33. doi: 10.3390/jdb10030033. J Dev Biol. 2022. PMID: 35997397 Free PMC article. Review.
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Tenney AP, Di Gioia SA, Webb BD, Chan WM, de Boer E, Garnai SJ, Barry BJ, Ray T, Kosicki M, Robson CD, Zhang Z, Collins TE, Gelber A, Pratt BM, Fujiwara Y, Varshney A, Lek M, Warburton PE, Van Ryzin C, Lehky TJ, Zalewski C, King KA, Brewer CC, Thurm A, Snow J, Facio FM, Narisu N, Bonnycastle LL, Swift A, Chines PS, Bell JL, Mohan S, Whitman MC, Staffieri SE, Elder JE, Demer JL, Torres A, Rachid E, Al-Haddad C, Boustany RM, Mackey DA, Brady AF, Fenollar-Cortés M, Fradin M, Kleefstra T, Padberg GW, Raskin S, Sato MT, Orkin SH, Parker SCJ, Hadlock TA, Vissers LELM, van Bokhoven H, Jabs EW, Collins FS, Pennacchio LA, Manoli I, Engle EC. Tenney AP, et al. Among authors: jabs ew. Nat Genet. 2023 Jul;55(7):1149-1163. doi: 10.1038/s41588-023-01424-9. Epub 2023 Jun 29. Nat Genet. 2023. PMID: 37386251 Free PMC article.
Choanal Atresia and Craniosynostosis: Development and Disease.
Lesciotto KM, Heuzé Y, Jabs EW, Bernstein JM, Richtsmeier JT. Lesciotto KM, et al. Among authors: jabs ew. Plast Reconstr Surg. 2018 Jan;141(1):156-168. doi: 10.1097/PRS.0000000000003928. Plast Reconstr Surg. 2018. PMID: 29280877 Free PMC article. Review.
260 results