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

Year Number of Results
1955 1
1983 1
1984 2
1986 1
1987 3
1988 6
1989 2
1990 9
1991 6
1992 4
1993 5
1994 4
1995 3
1996 2
1997 4
1998 4
1999 7
2000 2
2001 2
2002 5
2004 3
2005 2
2006 4
2007 3
2008 3
2009 3
2010 2
2011 3
2012 4
2013 6
2014 3
2015 4
2017 1
2018 1
2019 3
2020 2
2022 1
2024 1

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113 results

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Page 1
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics; Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S. Carapito R, et al. Among authors: hanauer a. Am J Hum Genet. 2019 Feb 7;104(2):319-330. doi: 10.1016/j.ajhg.2018.12.007. Epub 2019 Jan 10. Am J Hum Genet. 2019. PMID: 30639322 Free PMC article.
Coffin-Lowry syndrome.
Pereira PM, Schneider A, Pannetier S, Heron D, Hanauer A. Pereira PM, et al. Among authors: hanauer a. Eur J Hum Genet. 2010 Jun;18(6):627-33. doi: 10.1038/ejhg.2009.189. Epub 2009 Nov 4. Eur J Hum Genet. 2010. PMID: 19888300 Free PMC article. Review.
Stimulus-induced drop episodes in Coffin-Lowry syndrome.
Hahn JS, Hanauer A. Hahn JS, et al. Among authors: hanauer a. Eur J Med Genet. 2012 May;55(5):335-7. doi: 10.1016/j.ejmg.2012.03.004. Epub 2012 Mar 21. Eur J Med Genet. 2012. PMID: 22490425 Review.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics; Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S. Carapito R, et al. Among authors: hanauer a. Am J Hum Genet. 2020 Jan 2;106(1):137. doi: 10.1016/j.ajhg.2019.11.014. Epub 2019 Dec 24. Am J Hum Genet. 2020. PMID: 31879022 Free PMC article. No abstract available.
RSK2 is a modulator of craniofacial development.
Laugel-Haushalter V, Paschaki M, Marangoni P, Pilgram C, Langer A, Kuntz T, Demassue J, Morkmued S, Choquet P, Constantinesco A, Bornert F, Schmittbuhl M, Pannetier S, Viriot L, Hanauer A, Dollé P, Bloch-Zupan A. Laugel-Haushalter V, et al. Among authors: hanauer a. PLoS One. 2014 Jan 8;9(1):e84343. doi: 10.1371/journal.pone.0084343. eCollection 2014. PLoS One. 2014. PMID: 24416220 Free PMC article.
Identification of driver genes for critical forms of COVID-19 in a deeply phenotyped young patient cohort.
Carapito R, Li R, Helms J, Carapito C, Gujja S, Rolli V, Guimaraes R, Malagon-Lopez J, Spinnhirny P, Lederle A, Mohseninia R, Hirschler A, Muller L, Bastard P, Gervais A, Zhang Q, Danion F, Ruch Y, Schenck M, Collange O, Chamaraux-Tran TN, Molitor A, Pichot A, Bernard A, Tahar O, Bibi-Triki S, Wu H, Paul N, Mayeur S, Larnicol A, Laumond G, Frappier J, Schmidt S, Hanauer A, Macquin C, Stemmelen T, Simons M, Mariette X, Hermine O, Fafi-Kremer S, Goichot B, Drenou B, Kuteifan K, Pottecher J, Mertes PM, Kailasan S, Aman MJ, Pin E, Nilsson P, Thomas A, Viari A, Sanlaville D, Schneider F, Sibilia J, Tharaux PL, Casanova JL, Hansmann Y, Lidar D, Radosavljevic M, Gulcher JR, Meziani F, Moog C, Chittenden TW, Bahram S. Carapito R, et al. Among authors: hanauer a. Sci Transl Med. 2022 Jan 19;14(628):eabj7521. doi: 10.1126/scitranslmed.abj7521. Epub 2022 Jan 19. Sci Transl Med. 2022. PMID: 34698500 Free article.
113 results