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Items: 1 to 20 of 54

1.

L1 Syndrome.

Stumpel C, Vos YJ.

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 Apr 28 [updated 2015 Mar 5].

3.

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.

4.

CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.

Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ.

Eur J Hum Genet. 1995;3(5):273-84. Review. Erratum in: Eur J Hum Genet 1996;4(2):126.

PMID:
8556302
5.

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].

6.

X-Linked Opitz G/BBB Syndrome.

Meroni 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.
2004 Dec 17 [updated 2018 Apr 5].

7.

Otopalatodigital Spectrum Disorders.

Robertson S.

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 Nov 30 [updated 2013 May 2].

8.

Dystrophinopathies.

Darras BT, Urion DK, Ghosh PS.

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 Sep 5 [updated 2018 Apr 26].

9.

Dent Disease.

Lieske JC, Milliner DS, Beara-Lasic L, Harris P, Cogal A, Abrash 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.
2012 Aug 9 [updated 2017 Dec 14].

10.

NR0B1-Related Adrenal Hypoplasia Congenita.

Achermann JC, Vilain EJ.

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 Nov 20 [updated 2018 Jan 25].

11.

MED12-Related Disorders.

Lyons MJ.

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 Jun 23 [updated 2016 Aug 11].

12.

X-Linked Severe Combined Immunodeficiency.

Allenspach E, Rawlings DJ, Scharenberg AM.

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 26 [updated 2016 Apr 14].

13.

Coffin-Lowry Syndrome.

Rogers RC, Abidi FE.

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 Jul 16 [updated 2018 Feb 1].

14.
15.

X-Linked Adrenoleukodystrophy.

Raymond GV, Moser AB, Fatemi 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; 1993-2018.
1999 Mar 26 [updated 2018 Feb 15].

16.

Incontinentia Pigmenti.

Scheuerle AE, Ursini MV.

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 Jun 8 [updated 2017 Dec 21].

17.

X-Linked Sideroblastic Anemia and Ataxia.

Bekri S, D'Hooghe M, Vermeersch 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.
2006 Mar 1 [updated 2014 Apr 3].

18.

Alpha-Thalassemia X-Linked Intellectual Disability Syndrome.

Stevenson RE.

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 2014 Nov 6].

19.

Christianson Syndrome.

Morrow EM, Pescosolido MF.

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 Jan 11.

20.

Barth Syndrome.

Ferreira C, Thompson R, Vernon 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.
2014 Oct 9.

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