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Items: 1 to 20 of 659

1.

Adams-Oliver Syndrome.

Lehman A, Wuyts W, Patel MS.

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

2.

ADNP-Related Intellectual Disability and Autism Spectrum Disorder.

Van Dijck A, Helsmoortel C, Vandeweyer G, Kooy F.

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

3.

Tubulinopathies Overview.

Bahi-Buisson N, Cavallin M.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2016 Mar 24.

4.

Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated.

El-Hattab AW, Schaaf CP, Cheung SW.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2016 Mar 10.

5.

Hartsfield Syndrome.

Dhamija R, Babovic-Vuksanovic D.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2016 Mar 3.

6.

Kindler Syndrome.

Youssefian L, Vahidnezhad H, Uitto J.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2016 Mar 3.

7.

17q12 Recurrent Duplication.

Mefford H, Mitchell E, Hodge J.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2016 Feb 25.

8.

LTBP4-Related Cutis Laxa.

Callewaert BL, Urban Z.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2016 Feb 11.

9.

Lipoid Proteinosis.

Vahidnezhad H, Youssefian L, Uitto J.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2016 Jan 21.

10.

Autosomal Dominant Leukodystrophy with Autonomic Disease.

Nahhas N, Sabet Rasekh P, Vanderver A, Padiath Q.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2016 Jan 7.

11.

Hereditary Fructose Intolerance.

Baker P II, Ayres L, Gaughan S, Weisfeld-Adams J.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2015 Dec 17.

12.

DYRK1A-Related Intellectual Disability Syndrome.

van Bon BWM, Coe BP, de Vries BBA, Eichler EE.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2015 Dec 17.

13.

Action Myoclonus – Renal Failure Syndrome.

Amrom D, Andermann F, Andermann E.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2015 Dec 17.

14.

CHD2-Related Neurodevelopmental Disorders.

Carvill G, Helbig I, Mefford H.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2015 Dec 10.

15.

7q11.23 Duplication Syndrome.

Mervis CB, Morris CA, Klein-Tasman BP, Velleman SL, Osborne LR.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2015 Nov 25.

16.

Progressive Pseudorheumatoid Dysplasia.

Bhavani GSL, Shah H, Shukla A, Dalal A, Girisha KM.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2015 Nov 25.

17.

Baraitser-Winter Cerebrofrontofacial Syndrome.

Verloes A, Drunat S, Pilz D, Di Donato N.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2015 Nov 19.

18.

CLCN2-Related Leukoencephalopathy.

van der Knaap MS, Depienne C, Sedel F, Abbink TEM.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2015 Nov 5.

19.

Nicolaides-Baraitser Syndrome.

Abdul-Rahman O.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2015 Oct 15.

20.

Nuclear Gene-Encoded Leigh Syndrome Overview.

Rahman S, Thorburn D.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2015 Oct 1.

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