Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1968 1
1969 2
1970 3
1971 5
1972 2
1975 1
1976 2
1977 1
1978 2
1981 1
1983 1
1984 1
1989 1
1990 2
1991 2
1992 1
1993 5
1994 8
1995 5
1996 8
1997 9
1998 10
1999 7
2000 6
2001 10
2002 4
2003 6
2004 6
2005 4
2006 7
2007 5
2008 9
2009 4
2010 9
2011 7
2012 6
2013 13
2014 13
2015 13
2016 14
2017 5
2018 10
2019 11
2020 9
2021 19
2022 13
2023 8

Text availability

Article attribute

Article type

Publication date

Search Results

260 results

Results by year

Filters applied: . Clear all
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; 1993–2023. 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; 1993–2023. PMID: 20301479 Free Books & Documents. Review.
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, Fai… See abstract for full author list ➔ 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.
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.
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.
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Schalk A, Cousin MA, Dsouza NR, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, Lasseaux E, Lacombe D, Angelini C, Michaud V, Van-Gils J, Spataro N, Ruiz A, Gabau E, Stolerman E, Washington C, Louie R, Lanpher BC, Kemppainen JL, Innes M, Kooy F, Meuwissen M, Goldenberg A, Lecoquierre F, Vera G, Diderich KEM, Sheidley B, El Achkar CM, Park M, Hamdan FF, Michaud JL, Lewis AJ, Zweier C, Reis A, Wagner M, Weigand H, Journel H, Keren B, Passemard S, Mignot C, van Gassen K, Brilstra EH, Itzikowitz G, O'Heir E, Allen J, Donald KA, Korf BR, Skelton T, Thompson M, Robin NH, Rudy NL, Dobyns WB, Foss K, Zarate YA, Bosanko KA, Alembik Y, Durand B, Tran Mau-Them F, Ranza E, Blanc X, Antonarakis SE, McWalter K, Torti E, Millan F, Dameron A, Tokita M, Zimmermann MT, Klee EW, Piton A, Gerard B. Schalk A, et al. Among authors: robin nh. J Med Genet. 2022 Oct;59(10):965-975. doi: 10.1136/jmedgenet-2021-107751. Epub 2021 Dec 15. J Med Genet. 2022. PMID: 34930816
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.
Editorial: Prenatal genetic testing.
Jenkins M, Seasely AR, Subramaniam A, Robin NH. Jenkins M, et al. Among authors: robin nh. Curr Opin Pediatr. 2022 Dec 1;34(6):531-532. doi: 10.1097/MOP.0000000000001175. Curr Opin Pediatr. 2022. PMID: 36321220 No abstract available.
A tardigrade in Dominican amber.
Mapalo MA, Robin N, Boudinot BE, Ortega-Hernández J, Barden P. Mapalo MA, et al. Among authors: robin n. Proc Biol Sci. 2021 Oct 13;288(1960):20211760. doi: 10.1098/rspb.2021.1760. Epub 2021 Oct 6. Proc Biol Sci. 2021. PMID: 34610770 Free PMC article.
Hypermobility syndrome.
Everman DB, Robin NH. Everman DB, et al. Among authors: robin nh. Pediatr Rev. 1998 Apr;19(4):111-7. doi: 10.1542/pir.19-4-111. Pediatr Rev. 1998. PMID: 9557061 No abstract available.
260 results