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Items: 1 to 20 of 727

1.

Geleophysic Dysplasia.

Marzin P, Cormier-Daire V.

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.
2009 Sep 22 [updated 2018 Oct 11].

2.

Krabbe Disease.

Orsini JJ, Escolar ML, Wasserstein MP, Caggana 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.
2000 Jun 19 [updated 2018 Oct 11].

3.

Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview.

Kumaran N, Pennesi ME, Yang P, Trzupek KM, Schlechter C, Moore AT, Weleber RG, Michaelides 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.
2018 Oct 4.

4.

NKX6-2-Related Disorder.

Chelban V, Kaya N, Alkuraya F, Houlden 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.
2018 Oct 4.

5.

Hereditary Paraganglioma-Pheochromocytoma Syndromes.

Else T, Greenberg S, Fishbein 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.
2008 May 21 [updated 2018 Oct 4].

6.

Mucopolysaccharidosis Type II.

Scarpa 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.
2007 Nov 6 [updated 2018 Oct 4].

7.

Fatty Acid Hydroxylase-Associated Neurodegeneration.

Gregory A, Venkateswaran S, Hayflick SJ.

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 Jun 28 [updated 2018 Sep 27].

8.

Treacher Collins Syndrome.

Katsanis SH, Jabs EW.

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 Jul 20 [updated 2018 Sep 27].

9.

Hereditary Spastic Paraplegia Overview.

Hedera P.

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 Aug 15 [updated 2018 Sep 27].

10.

Aceruloplasminemia.

Miyajima H, Hosoi Y.

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 12 [updated 2018 Sep 27].

11.

Hereditary Ataxia Overview.

Bird TD.

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 Oct 28 [updated 2018 Sep 27].

12.

KCNQ2-Related Disorders.

Miceli F, Soldovieri MV, Joshi N, Weckhuysen S, Cooper E, Taglialatela 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.
2010 Apr 27 [updated 2018 Sep 27].

13.

KCNT1-Related Epilepsy.

Gertler T, Bearden D, Bhattacharjee A, Carvill 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.
2018 Sep 20.

14.

Asparagine Synthetase Deficiency.

Alfadhel M, El-Hattab AW.

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.
2018 Sep 20.

15.

Esophageal Atresia/Tracheoesophageal Fistula Overview.

Scott DA.

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.
2009 Mar 12 [updated 2018 Sep 20].

16.

Achromatopsia.

Kohl S, Jägle H, Wissinger B, Zobor 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.
2004 Jun 24 [updated 2018 Sep 20].

17.

16p12.2 Recurrent Deletion.

Girirajan S, Pizzo L, Moeschler J, 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.
2015 Feb 26 [updated 2018 Sep 13].

18.

Diabetes Mellitus, 6q24-Related Transient Neonatal.

Temple IK, Mackay DJG.

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 Oct 10 [updated 2018 Sep 13].

19.

Dystrophic Epidermolysis Bullosa.

Pfendner EG, Lucky AW.

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 21 [updated 2018 Sep 13].

20.

Canavan Disease.

Matalon R, Delgado L, Michals-Matalon 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.
1999 Sep 16 [updated 2018 Sep 13].

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