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Items: 1 to 20 of 73

1.

Kleefstra Syndrome.

Kleefstra T, Nillesen WM, Yntema HG.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2010 Oct 5 [updated 2015 May 7].

2.

KANSL1-Related Intellectual Disability Syndrome.

Koolen DA, de Vries BBA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2010 Jan 26 [updated 2013 Jan 10].

3.

2q37 Microdeletion Syndrome.

Doherty ES, Lacbawan FL.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2007 May 3 [updated 2013 Jan 31].

4.

9q22.3 Microdeletion.

Muller E II, Hudgins L.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2011 Aug 18 [updated 2014 Feb 20].

5.

Smith-Magenis Syndrome.

Smith ACM, Boyd KE, Elsea SH, Finucane BM, Haas-Givler B, Gropman A, Laje G, Magenis E, Potocki L.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2001 Oct 22 [updated 2012 Jun 28].

6.

CASK-Related Disorders.

Moog U, Uyanik G, Kutsche K.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2013 Nov 26.

7.

22q11.2 Deletion Syndrome.

McDonald-McGinn DM, Emanuel BS, Zackai EH.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
1999 Sep 23 [updated 2013 Feb 28].

8.

DYRK1A-Related Intellectual Disability Syndrome.

van Bon BWM, Coe BP, de Vries BBA, Eichler EE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2015 Dec 17.

9.

Congenital Muscular Dystrophy Overview.

Sparks SE, Quijano-Roy S, Harper A, Rutkowski A, Gordon E, Hoffman EP, Pegoraro E.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2001 Jan 22 [updated 2012 Aug 23].

10.

SATB2-Associated Syndrome.

Zarate YA, Kaylor J, Fish J.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2017 Oct 12.

11.

15q24 Microdeletion Syndrome.

Mefford H, Shur N, Rosenfeld J.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2012 Feb 23.

12.

Costello Syndrome.

Gripp KW, Lin AE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Aug 29 [updated 2012 Jan 12].

13.

PIK3CA-Related Segmental Overgrowth.

Mirzaa G, Conway R, Graham JM Jr, Dobyns WB.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2013 Aug 15.

14.

7q11.23 Duplication Syndrome.

Mervis CB, Morris CA, Klein-Tasman BP, Velleman SL, Osborne LR.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2015 Nov 25.

15.

1q21.1 Recurrent Microdeletion.

Haldeman-Englert CR, Jewett T.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2011 Feb 24 [updated 2015 Nov 12].

16.

Rubinstein-Taybi Syndrome.

Stevens CA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2002 Aug 30 [updated 2014 Aug 7].

17.

Chondrodysplasia Punctata 2, X-Linked.

Dempsey MA, Tan C, Herman GE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2011 May 31.

18.

Mowat-Wilson Syndrome.

Adam MP, Conta J, Bean LJH.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2007 Mar 28 [updated 2013 Nov 26].

19.

Lowe Syndrome.

Lewis RA, Nussbaum RL, Brewer ED.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2001 Jul 24 [updated 2012 Feb 23].

20.

Myhre Syndrome.

Starr LJ, Lindor NM, Lin AE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2017 Apr 13.

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