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

Year Number of Results
1986 1
1987 1
1992 3
1993 1
1995 2
1998 3
1999 3
2001 2
2002 1
2004 4
2005 2
2006 1
2007 4
2008 3
2009 7
2010 3
2011 8
2012 11
2013 7
2014 7
2015 8
2016 5
2017 10
2018 9
2019 11
2020 16
2021 13
2022 11
2023 2
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Search Results

137 results
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Page 1
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. Sheppard SE, et al. Among authors: stoler j. Am J Med Genet A. 2021 Jun;185(6):1649-1665. doi: 10.1002/ajmg.a.62124. Epub 2021 Mar 30. Am J Med Genet A. 2021. PMID: 33783954 Free PMC article.
Reply.
Chang TC, Stoler J. Chang TC, et al. Among authors: stoler j. Am J Ophthalmol. 2019 Nov;207:428. doi: 10.1016/j.ajo.2019.06.029. Epub 2019 Aug 13. Am J Ophthalmol. 2019. PMID: 31420099 No abstract available.
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E. Drivas TG, et al. Among authors: stoler jm. Eur J Hum Genet. 2020 Oct;28(10):1422-1431. doi: 10.1038/s41431-020-0654-4. Epub 2020 Jun 1. Eur J Hum Genet. 2020. PMID: 32483341 Free PMC article.
Genetics and Metabolism.
Stoler J. Stoler J. Pediatr Ann. 2018 May 1;47(5):e185-e186. doi: 10.3928/19382359-20180507-01. Pediatr Ann. 2018. PMID: 29750284 No abstract available.
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Duncan AR, Vitobello A, Collins SC, Vancollie VE, Lelliott CJ, Rodan L, Shi J, Seman AR, Agolini E, Novelli A, Prontera P, Guillen Sacoto MJ, Santiago-Sim T, Trimouille A, Goizet C, Nizon M, Bruel AL, Philippe C, Grant PE, Wojcik MH, Stoler J, Genetti CA, van Dooren MF, Maas SM, Alders M, Faivre L, Sorlin A, Yoon G, Yalcin B, Agrawal PB. Duncan AR, et al. Among authors: stoler j. Am J Hum Genet. 2020 Dec 3;107(6):1170-1177. doi: 10.1016/j.ajhg.2020.11.001. Epub 2020 Nov 23. Am J Hum Genet. 2020. PMID: 33232677 Free PMC article.
Recent developments in fetal alcohol spectrum disorder.
Baker JJ, Stoler JM. Baker JJ, et al. Among authors: stoler jm. Curr Opin Endocrinol Diabetes Obes. 2020 Feb;27(1):77-81. doi: 10.1097/MED.0000000000000518. Curr Opin Endocrinol Diabetes Obes. 2020. PMID: 31789722 Review.
Revisiting transformative WASH: measuring impact.
Stoler J, Guzmán DB, Adams EA. Stoler J, et al. Lancet Glob Health. 2023 Jan 20:S2214-109X(23)00013-X. doi: 10.1016/S2214-109X(23)00013-X. Online ahead of print. Lancet Glob Health. 2023. PMID: 36690012 Free article. No abstract available.
Measuring Human Water Needs.
Wutich A, Rosinger AY, Stoler J, Jepson W, Brewis A. Wutich A, et al. Among authors: stoler j. Am J Hum Biol. 2020 Jan;32(1):e23350. doi: 10.1002/ajhb.23350. Epub 2019 Nov 8. Am J Hum Biol. 2020. PMID: 31702101 Free PMC article.
137 results