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Items: 8

1.

Arterial Tortuosity Syndrome.

Callewaert B, De Paepe A, Coucke P.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2014 Nov 13.

2.

[Diploid/triploid mosaicism: a variable but characteristic phenotype].

Natera-De Benito D, Poo P, Gean E, Vicente-Villa A, García-Cazorla A, Fons-Estupiña MC.

Rev Neurol. 2014 Aug 16;59(4):158-63. Review. Spanish.

3.

EZH2-Related Overgrowth.

Tatton-Brown K, Rahman N.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2013 Jul 18 [updated 2015 Aug 6].

4.

Cold-Induced Sweating Syndrome Including Crisponi Syndrome.

Hahn AF, Boman H.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2011 Mar 3 [updated 2016 Mar 17].

5.

Lenz Microphthalmia Syndrome.

Ng D.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2002 Jun 04 [updated 2014 Oct 02].

6.

Congenital Contractural Arachnodactyly.

Godfrey M.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2001 Jan 23 [updated 2012 Feb 23].

7.

Shprintzen-Goldberg Syndrome.

Greally MT.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2006 Jan 13 [updated 2013 Jun 13].

8.

1p36 Deletion Syndrome.

Battaglia A.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2008 Feb 01 [updated 2013 Jun 06].

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