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Items: 1 to 20 of 743

1.

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview.

Ambartsumyan 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; 1993-2019.
2019 May 9.

2.

MECR-Related Neurologic Disorder.

Heimer G, Gregory A, Hogarth P, Hayflick S, Ben Zeev 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; 1993-2019.
2019 May 9.

3.

FREM1-Autosomal Recessive Disorders.

Li C, Slavotinek A.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Jul 9 [updated 2019 May 9].

4.

WDR26-Related Intellectual Disability.

Skraban CM, Grand KL, 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; 1993-2019.
2019 Apr 25.

5.

Type II Collagen Disorders Overview.

Gregersen PA, Savarirayan 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; 1993-2019.
2019 Apr 25.

6.

PRSS1-Related Hereditary Pancreatitis.

Shelton C, Solomon S, LaRusch J, Whitcomb DC.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2012 Mar 1 [updated 2019 Apr 25].

7.

Dopamine Beta-Hydroxylase Deficiency.

Garland EM, Biaggioni 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; 1993-2019.
2003 Sep 4 [updated 2019 Apr 25].

8.

Multiple Epiphyseal Dysplasia, Autosomal Dominant.

Briggs MD, Wright MJ, Mortier GR.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2003 Jan 8 [updated 2019 Apr 25].

9.

Au-Kline Syndrome.

Au PYB, Innes AM, Kline AD.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2019 Apr 18.

10.

Lowe Syndrome.

Lewis RA, Nussbaum RL, Brewer 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; 1993-2019.
2001 Jul 24 [updated 2019 Apr 18].

11.

Spinocerebellar Ataxia Type 20.

Storey E, Gardner RJM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2007 Feb 27 [updated 2019 Apr 18].

12.

Chorea-Acanthocytosis.

Velayos Baeza A, Dobson-Stone C, Rampoldi L, Bader B, Walker RH, Danek A, Monaco AP.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2002 Jun 14 [updated 2019 Apr 18].

13.

SCN1A Seizure Disorders.

Miller IO, Sotero de Menezes 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; 1993-2019.
2007 Nov 29 [updated 2019 Apr 18].

14.

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; 1993-2019.
1998 Oct 28 [updated 2019 Apr 18].

15.

EED-Related Overgrowth.

Sequerra Amram Cohen A, Gibson WT.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2019 Apr 11.

16.

Salih Myopathy.

Hackman P, Savarese M, Carmignac V, Udd B, Salih 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; 1993-2019.
2012 Jan 12 [updated 2019 Apr 11].

17.

Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia.

Ordonez J, Tekin 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; 1993-2019.
2012 Sep 20 [updated 2019 Apr 4].

18.

Feingold Syndrome 1.

Marcelis CLM, de Brouwer APM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2009 Jun 30 [updated 2019 Apr 4].

19.

Lymphedema-Distichiasis Syndrome.

Mansour S, Brice GW, Jeffery S, Mortimer 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; 1993-2019.
2005 Mar 29 [updated 2019 Apr 4].

20.

Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter.

van der Knaap MS, Fogli A, Boespflug-Tanguy O, Abbink TEM, Schiffmann 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; 1993-2019.
2003 Feb 20 [updated 2019 Apr 4].

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