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

Year Number of Results
1985 1
1986 1
1988 2
1989 2
1990 5
1991 6
1992 3
1993 5
1994 7
1995 7
1996 4
1997 12
1998 12
1999 4
2001 3
2003 1
2004 1
2005 2
2006 3
2007 1
2008 7
2009 3
2010 6
2011 2
2012 6
2013 3
2014 9
2015 7
2016 11
2017 7
2018 6
2019 6
2020 5
2021 8
2022 5
2023 0
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Search Results

163 results
Results by year
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Page 1
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
Beck DB, Petracovici A, He C, Moore HW, Louie RJ, Ansar M, Douzgou S, Sithambaram S, Cottrell T, Santos-Cortez RLP, Prijoles EJ, Bend R, Keren B, Mignot C, Nougues MC, Õunap K, Reimand T, Pajusalu S, Zahid M, Saqib MAN, Buratti J, Seaby EG, McWalter K, Telegrafi A, Baldridge D, Shinawi M, Leal SM, Schaefer GB, Stevenson RE, Banka S, Bonasio R, Fahrner JA. Beck DB, et al. Among authors: schaefer gb. Am J Hum Genet. 2020 Feb 6;106(2):234-245. doi: 10.1016/j.ajhg.2019.12.007. Epub 2020 Jan 9. Am J Hum Genet. 2020. PMID: 31928709 Free PMC article.
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V; Undiagnosed Diseases Network; Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA… See abstract for full author list ➔ Johnson BV, et al. Among authors: schaefer gb. Biol Psychiatry. 2020 Jan 15;87(2):100-112. doi: 10.1016/j.biopsych.2019.05.028. Epub 2019 Jun 29. Biol Psychiatry. 2020. PMID: 31443933 Free PMC article.
Editorial comment.
Schaefer GB. Schaefer GB. Semin Pediatr Neurol. 2010 Mar;17(1):5-6. doi: 10.1016/j.spen.2010.02.010. Semin Pediatr Neurol. 2010. PMID: 20434682 No abstract available.
Molecular Dysregulation in Autism Spectrum Disorder.
Gill PS, Clothier JL, Veerapandiyan A, Dweep H, Porter-Gill PA, Schaefer GB. Gill PS, et al. Among authors: schaefer gb. J Pers Med. 2021 Aug 27;11(9):848. doi: 10.3390/jpm11090848. J Pers Med. 2021. PMID: 34575625 Free PMC article. Review.
Craniofrontonasal dysplasia.
Schaefer GB, Olney AH, Kolodziej P. Schaefer GB, et al. Ear Nose Throat J. 1998 Feb;77(2):90. Ear Nose Throat J. 1998. PMID: 9509720 Review. No abstract available.
Telediagnostic conferencing.
Feingold M, Frias J, Lin AE, Schaefer GB, Horwitz M. Feingold M, et al. Among authors: schaefer gb. Am J Dis Child. 1993 Nov;147(11):1196. doi: 10.1001/archpedi.1993.02160350070010. Am J Dis Child. 1993. PMID: 8237914 No abstract available.
Genetic evaluation of autism.
Mendelsohn NJ, Schaefer GB. Mendelsohn NJ, et al. Among authors: schaefer gb. Semin Pediatr Neurol. 2008 Mar;15(1):27-31. doi: 10.1016/j.spen.2008.01.005. Semin Pediatr Neurol. 2008. PMID: 18342258 Review.
Kabuki syndrome.
Olney AH, Schaefer GB, Kolodziej P. Olney AH, et al. Among authors: schaefer gb. Ear Nose Throat J. 1998 Sep;77(9):734. Ear Nose Throat J. 1998. PMID: 9787515 No abstract available.
Stickler syndrome.
MacDonald MR, Kolodziej P, Schaefer GB, Olney AH. MacDonald MR, et al. Among authors: schaefer gb. Ear Nose Throat J. 1997 Oct;76(10):706. Ear Nose Throat J. 1997. PMID: 9345813 No abstract available.
163 results