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

Year Number of Results
1993 5
1994 5
1995 5
1996 7
1997 9
1998 9
1999 7
2000 6
2001 7
2002 4
2003 5
2004 5
2005 4
2006 7
2007 5
2008 7
2009 4
2010 6
2011 4
2012 2
2013 7
2014 9
2015 8
2016 9
2017 4
2018 5
2019 3
2020 4
2021 15
2022 4
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Article type
Publication date

Search Results

161 results
Results by year
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Page 1
Stickler Syndrome.
Robin NH, Moran RT, Ala-Kokko L. Robin NH, et al. 2000 Jun 9 [updated 2021 May 6]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2000 Jun 9 [updated 2021 May 6]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301479 Free Books & Documents. Review.
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Verberne EA, Goh S, England J, van Ginkel M, Rafael-Croes L, Maas S, Polstra A, Zarate YA, Bosanko KA, Pechter KB, Bedoukian E, Izumi K, Chaudhry A, Robin NH, Boothe M, Lippa NC, Aggarwal V, De Vivo DC, Lehman A, Study C, Stockler S, Bruel AL, Isidor B, Lemons J, Rodriguez-Buritica DF, Richmond CM, Stark Z, Agrawal PB, Kooy RF, Meuwissen MEC, Koolen DA, Pfundt R, Lieden A, Anderlid BM, Glatz D, Mannens MMAM, Bakshi M, Mallette FA, van Haelst MM, Campeau PM. Verberne EA, et al. Among authors: robin nh. Genet Med. 2021 Feb;23(2):374-383. doi: 10.1038/s41436-020-00992-z. Epub 2020 Oct 20. Genet Med. 2021. PMID: 33077894 Free article.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Faivre L, Banka S, Wang T, Eichler EE, Priolo M, Dallapiccola B, Vissers LELM, Sadikovic B, Scott DA, Holder JL Jr, Tartaglia M. Radio FC, et al. Among authors: robin nh. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. Am J Hum Genet. 2021. PMID: 33596411 Free PMC article.
Choose your words carefully.
Robin NH. Robin NH. Am J Med Genet A. 2021 Jul;185(7):1953. doi: 10.1002/ajmg.a.62206. Epub 2021 Apr 8. Am J Med Genet A. 2021. PMID: 33830647 No abstract available.
Why physicians must understand evolution.
Robin NH, Evans JP. Robin NH, et al. Curr Opin Pediatr. 2009 Dec;21(6):699-702. doi: 10.1097/MOP.0b013e3283323aa8. Curr Opin Pediatr. 2009. PMID: 19770767 Review. No abstract available.
Dysmorphology in the Era of Genomic Diagnosis.
Hurst ACE, Robin NH. Hurst ACE, et al. Among authors: robin nh. J Pers Med. 2020 Mar 17;10(1):18. doi: 10.3390/jpm10010018. J Pers Med. 2020. PMID: 32192103 Free PMC article.
Direct-to-consumer genetic testing.
Henegan JC Jr, Robin NH. Henegan JC Jr, et al. Among authors: robin nh. Curr Opin Pediatr. 2010 Dec;22(6):685-6. doi: 10.1097/MOP.0b013e3283402e50. Curr Opin Pediatr. 2010. PMID: 21610329 No abstract available.
161 results