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GeneReviews® [Internet].

GeneReviews® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews by Title   GeneReviews Advanced Search   Help


1.

Dilated Cardiomyopathy Overview.

Hershberger RE, Jordan E. 2007 Jul 27 [Updated 2022 Apr 7].

2.

GNAO1-Related Disorder.

Briere L, Thiel M, Sweetser DA, et al. 2023 Nov 9.

3.

LMNA-Related Dilated Cardiomyopathy.

Hershberger RE, Jordan E. 2008 Jun 12 [Updated 2022 Mar 17].

4.

SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders.

Hammer MF, Xia M, Schreiber JM. 2016 Aug 25 [Updated 2023 Apr 6].

5.

Spastic Paraplegia 11.

Stevanin G. 2008 Mar 27 [Updated 2019 Dec 19].

6.

CHKB-Related Muscular Dystrophy.

Chan SHS, Nishino I. 2023 Mar 30.

7.

Hereditary Coproporphyria.

Wang B, Bissell DM. 2012 Dec 13 [Updated 2022 May 19].

8.

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome.

Verdin H, Matton C, De Baere E. 2004 Jul 8 [Updated 2022 Mar 10].

9.

Congenital Fibrosis of the Extraocular Muscles Overview.

Whitman MC, Jurgens JA, Hunter DG, et al. 2004 Apr 27 [Updated 2021 Aug 12].

10.

X-Linked Otopalatodigital Spectrum Disorders.

Robertson S. 2005 Nov 30 [Updated 2019 Oct 3].

11.

Hereditary Multiple Osteochondromas.

Wuyts W, Schmale GA, Chansky HA, et al. 2000 Aug 3 [Updated 2020 Aug 6].

12.

Oral-Facial-Digital Syndrome Type I.

Franco B, Bruel AL, Thauvin-Robinet C. 2002 Jul 24 [Updated 2023 May 11].

13.

Branchiootorenal Spectrum Disorder.

Smith RJH. 1999 Mar 19 [Updated 2018 Sep 6].

14.

Hypophosphatasia.

Nunes ME. 2007 Nov 20 [Updated 2023 Mar 30].

15.

Hyaline Fibromatosis Syndrome.

Shieh JTC, Hoyme HE, Arbour LT. 2008 Feb 27 [Updated 2023 May 11].

16.

Megalencephalic Leukoencephalopathy with Subcortical Cysts.

Min R, Abbink TEM, van der Knaap MS. 2003 Aug 11 [Updated 2023 Jul 27].

17.

Cystinosis.

Nesterova G, Gahl WA. 2001 Mar 22 [Updated 2017 Dec 7].

18.

ARSACS.

Vermeer S, van de Warrenburg BP, Kamsteeg EJ, et al. 2003 Dec 9 [Updated 2020 Jan 2].

19.

Cockayne Syndrome.

Laugel V. 2000 Dec 28 [Updated 2024 Aug 29].

20.

Alpha-Thalassemia.

Tamary H, Dgany O. 2005 Nov 1 [Updated 2024 May 23].

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