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Results in this book: 1 to 20 of 27

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.

X-Linked Myotubular Myopathy.

Dowling JJ, Lawlor MW, Das S. 2002 Feb 25 [Updated 2018 Aug 23].

2.

LAMA2 Muscular Dystrophy.

Oliveira J, Parente Freixo J, Santos M, et al. 2012 Jun 7 [Updated 2020 Sep 17].

3.

PMM2-CDG.

Lam C, Krasnewich DM. 2005 Aug 15 [Updated 2021 May 20].

4.

Laing Distal Myopathy.

Lamont P, Laing NG. 2006 Oct 17 [Updated 2021 Feb 4].

5.

DYNC1H1-Related Disorders.

Möller B, Coppola A, Jungbluth H, et al. 2024 Mar 21.

6.

EPG5-Related Disorder.

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

7.

Myhre Syndrome.

Lin AE, Brunetti-Pierri N, Lindsay ME, et al. 2017 Apr 13 [Updated 2022 Nov 24].

8.

GLB1-Related Disorders.

Regier DS, Tifft CJ, Rothermel CE. 2013 Oct 17 [Updated 2021 Apr 22].

9.

Cardiofaciocutaneous Syndrome.

Rauen KA. 2007 Jan 18 [Updated 2023 Feb 9].

10.

Zellweger Spectrum Disorder.

Steinberg SJ, Raymond GV, Braverman NE, et al. 2003 Dec 12 [Updated 2020 Oct 29].

11.

HRAS-Related Costello Syndrome.

Gripp KW, Weaver KN. 2006 Aug 29 [Updated 2023 Dec 21].

12.

Alström Syndrome.

Paisey RB, Steeds R, Barrett T, et al. 2003 Feb 7 [Updated 2019 Jun 13].

13.

CHKB-Related Muscular Dystrophy.

Chan SHS, Nishino I. 2023 Mar 30.

14.

STAC3 Disorder.

Webb BD, Manoli I, Jabs EW. 2019 Jun 20.

15.

Au-Kline Syndrome.

Au PYB, McNiven V, Phillips L, et al. 2019 Apr 18 [Updated 2024 Feb 1].

16.

TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form.

Wang J, El-Hattab AW, Wong LJC. 2012 Dec 6 [Updated 2018 Jul 26].

17.

Salih Myopathy.

Hackman P, Savarese M, Carmignac V, et al. 2012 Jan 12 [Updated 2019 Apr 11].

18.

Lowe Syndrome.

Lewis RA, Nussbaum RL, Brewer ED. 2001 Jul 24 [Updated 2019 Apr 18].

19.

Noonan Syndrome.

Roberts AE. 2001 Nov 15 [Updated 2022 Feb 17].

20.

GNE Myopathy.

Carrillo N, Malicdan MC, Huizing M. 2004 Mar 26 [Updated 2020 Apr 9].

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