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Items: 1 to 20 of 132

1.

Alagille Syndrome.

Spinner NB, Leonard LD, 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.
2000 May 19 [updated 2013 Feb 28].

2.

Polycystic Kidney Disease, Autosomal Recessive.

Sweeney WE, Avner 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 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.

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].

5.

Familial Hypercholesterolemia.

Youngblom E, Pariani M, Knowles JW.

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 Jan 2 [updated 2016 Dec 8].

6.

Genetic Atypical Hemolytic-Uremic Syndrome.

Noris M, Bresin E, Mele C, Remuzzi G.

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 Nov 16 [updated 2016 Jun 9].

7.

RRM2B-Related Mitochondrial Disease.

Gorman GS, Taylor RW.

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 Apr 17.

8.

Catecholaminergic Polymorphic Ventricular Tachycardia.

Napolitano C, Priori SG, Bloise R.

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.
2004 Oct 14 [updated 2016 Oct 13].

9.

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].

10.

Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.

Lin HC, Le Hoang P, Hutchinson A, Chao G, Gerfen J, Loomes KM, Krantz I, Kamath BM, Spinner NB.

Am J Med Genet A. 2012 May;158A(5):1005-13. doi: 10.1002/ajmg.a.35255. Epub 2012 Apr 9.

11.

[Alagille syndrome].

Ciocca M, Alvarez F.

Arch Argent Pediatr. 2012 Dec;110(6):509-15. doi: 10.1590/S0325-00752012000600009. Spanish.

12.

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].

13.

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].

14.

Vascular Ehlers-Danlos Syndrome.

Pepin MG, Murray ML, Byers PH.

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 2 [updated 2015 Nov 19].

15.

Fanconi Anemia.

Mehta PA, Tolar 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.
2002 Feb 14 [updated 2017 Feb 23].

16.

Long QT Syndrome.

Alders M, Christiaans I.

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.
2003 Feb 20 [updated 2015 Jun 18].

17.

Von Hippel-Lindau Syndrome.

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

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.
2000 May 17 [updated 2015 Aug 6].

18.

Familial Hyperinsulinism.

Glaser B.

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.
2003 Aug 19 [updated 2013 Jan 24].

19.

Alport Syndrome and Thin Basement Membrane Nephropathy.

Kashtan CE.

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 Aug 28 [updated 2015 Nov 25].

20.

Polycystic Kidney Disease, Autosomal Dominant.

Harris PC, Torres VE.

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 Jan 10 [updated 2015 Jun 11].

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