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Items: 1 to 20 of 90

1.

CHARGE Syndrome.

Lalani SR, Hefner MA, Belmont JW, Davenport SLH.

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 Oct 2 [updated 2012 Feb 2].

2.

CHARGE syndrome.

Blake KD, Prasad C.

Orphanet J Rare Dis. 2006 Sep 7;1:34. Review.

3.

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].

4.

Mandibulofacial Dysostosis with Microcephaly.

Lines M, Hartley T, Boycott KM.

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.
2014 Jul 3.

5.

Muenke Syndrome.

Kruszka P, Addissie YA, Agochukwu NB, Doherty ES, Muenke M.

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 May 10 [updated 2016 Nov 10].

6.

[The CHARGE syndrome].

Klingenberg C, Andersen WH.

Tidsskr Nor Laegeforen. 2008 Jun 12;128(12):1401-5. Review. Norwegian.

7.

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.

8.

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].

9.

Autosomal Dominant Robinow Syndrome.

Roifman M, Brunner H, Lohr J, Mazzeu J, Chitayat D.

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 Jan 8 [updated 2015 Jul 30].

10.

Smith-Lemli-Opitz Syndrome.

Nowaczyk MJM.

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.
1998 Nov 13 [updated 2013 Jun 20].

11.

Cytochrome P450 Oxidoreductase Deficiency.

Idkowiak J, Cragun D, Hopkin RJ, Arlt W.

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.
2005 Sep 8 [updated 2017 Aug 3].

12.

IMAGe Syndrome.

Bennett J, Schrier Vergano SA, Deardorff MA.

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.
2014 Mar 13 [updated 2016 Sep 8].

13.

Marfan Syndrome.

Dietz H.

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 Apr 18 [updated 2017 Oct 12].

14.

Ornithine Transcarbamylase Deficiency.

Lichter-Konecki U, Caldovic L, Morizono H, Simpson 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 Aug 29 [updated 2016 Apr 14].

15.

The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Kim HG, Layman LC.

Mol Cell Endocrinol. 2011 Oct 22;346(1-2):74-83. doi: 10.1016/j.mce.2011.07.013. Epub 2011 Aug 2. Review.

16.

Lenz Microphthalmia Syndrome.

Ng D.

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 Jun 4 [updated 2014 Oct 2].

17.

Cornelia de Lange Syndrome.

Deardorff MA, Noon SE, Krantz ID.

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.
2005 Sep 16 [updated 2016 Jan 28].

18.

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.

19.

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].

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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