U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results in this book: 8

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.

Hereditary Ataxia Overview.

Perlman S. 1998 Oct 28 [Updated 2023 Nov 16].

2.

Marinesco-Sjögren Syndrome.

Anttonen AK. 2006 Nov 29 [Updated 2019 Jan 10].

3.

PNPLA6 Disorders.

Synofzik M, Hufnagel RB, Züchner S. 2014 Oct 9 [Updated 2021 Jun 10].

4.
5.

VLDLR Cerebellar Hypoplasia.

Boycott KM, MacDonald SK, Parboosingh JS. 2008 Aug 26 [Updated 2020 Feb 27].

6.

CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy.

Kalaydjieva L, Chamova T. 2010 Mar 2 [Updated 2022 Oct 13].

7.

RAB18 Deficiency.

Handley M, Sheridan E. 2018 Jan 4.

8.

EPG5-Related Disorder.

Dafsari HS, Ebrahimi-Fakhari D, Saffari A, et al. 2022 Oct 13.

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Find related data

Search details

See more...

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...