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Items: 1 to 20 of 98

1.

Alagille Syndrome.

Spinner NB, Leonard LD, Krantz ID.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2000 May 19 [updated 2013 Feb 28].

2.

Polycystic Kidney Disease, Autosomal Recessive.

Sweeney WE, Avner ED.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2001 Jul 19 [updated 2016 Sep 15].

3.

Alagille syndrome: clinical perspectives.

Saleh M, Kamath BM, Chitayat D.

Appl Clin Genet. 2016 Jun 30;9:75-82. doi: 10.2147/TACG.S86420. eCollection 2016. Review.

4.

Marfan Syndrome.

Dietz HC.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2001 Apr 18 [updated 2017 Feb 2].

5.

22q11.2 Deletion Syndrome.

McDonald-McGinn DM, Emanuel BS, Zackai EH.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
1999 Sep 23 [updated 2013 Feb 28].

6.

Familial Hypercholesterolemia.

Youngblom E, Pariani M, Knowles JW.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2014 Jan 2 [updated 2016 Dec 8].

7.

Catecholaminergic Polymorphic Ventricular Tachycardia.

Napolitano C, Priori SG, Bloise R.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2004 Oct 14 [updated 2016 Oct 13].

8.

Congenital Muscular Dystrophy Overview.

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

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2001 Jan 22 [updated 2012 Aug 23].

9.

Sickle Cell Disease.

Bender MA, Douthitt Seibel G.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2003 Sep 15 [updated 2014 Oct 23].

10.

Autoimmune Lymphoproliferative Syndrome.

Bleesing JJH, Johnson J, Zhang K.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2006 Sep 14 [updated 2014 Sep 11].

11.

Vascular Ehlers-Danlos Syndrome.

Pepin MG, Murray ML, Byers PH.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
1999 Sep 2 [updated 2015 Nov 19].

12.

Long QT Syndrome.

Alders M, Christiaans I.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2003 Feb 20 [updated 2015 Jun 18].

13.

Fanconi Anemia.

Mehta PA, Tolar J.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2002 Feb 14 [updated 2017 Feb 23].

14.

Von Hippel-Lindau Syndrome.

Frantzen C, Klasson TD, Links TP, Giles RH.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2000 May 17 [updated 2015 Aug 6].

15.

Familial Hyperinsulinism.

Glaser B.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2003 Aug 19 [updated 2013 Jan 24].

16.

Polycystic Kidney Disease, Autosomal Dominant.

Harris PC, Torres VE.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2002 Jan 10 [updated 2015 Jun 11].

17.

Lowe Syndrome.

Lewis RA, Nussbaum RL, Brewer ED.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2001 Jul 24 [updated 2012 Feb 23].

18.

Hypokalemic Periodic Paralysis.

Vicart S, Sternberg D, Arzel-Hézode M, Franques J, Bendahhou S, Lory P, Hainque B, Fournier E, Nicole S, Fontaine B.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2002 Apr 30 [updated 2014 Jul 31].

19.

Nephronophthisis.

Stokman M, Lilien M, Knoers N.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2016 Jun 23.

20.

Diamond-Blackfan Anemia.

Clinton C, Gazda HT.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2009 Jun 25 [updated 2016 Apr 7].

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