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Results in this book: 1 to 20 of 541

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.

Multiple Acyl-CoA Dehydrogenase Deficiency.

Prasun P. 2020 Jun 18.

2.

Hereditary Paraganglioma-Pheochromocytoma Syndromes.

Else T, Greenberg S, Fishbein L. 2008 May 21 [Updated 2023 Sep 21].

3.

Mitochondrial DNA-Associated Leigh Syndrome Spectrum.

Ball M, Thorburn DR, Rahman S. 2003 Oct 30 [Updated 2024 May 9].

4.

MELAS.

El-Hattab AW, Almannai M, Scaglia F. 2001 Feb 27 [Updated 2018 Nov 29].

5.

Leber Hereditary Optic Neuropathy.

Yu-Wai-Man P, Chinnery PF. 2000 Oct 26 [Updated 2021 Mar 11].

6.

Microphthalmia with Linear Skin Defects Syndrome.

Morleo M, Franco B. 2009 Jun 18 [Updated 2018 Jul 26].

7.

Hereditary Ataxia Overview.

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

8.

Primary Coenzyme Q10 Deficiency Overview.

Salviati L, Trevisson E, Agosto C, et al. 2017 Jan 26 [Updated 2023 Jun 8].

9.

Congenital Diaphragmatic Hernia Overview.

Longoni M, Pober BR, High FA. 2006 Feb 1 [Updated 2020 Nov 5].

10.

Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview.

Rahman S, Thorburn D. 2015 Oct 1 [Updated 2020 Jul 16].

11.

Primary Mitochondrial Disorders Overview.

Chinnery PF. 2000 Jun 8 [Updated 2021 Jul 29].

12.

X-Linked Lymphoproliferative Disease.

Meyer L, Hines M, Zhang K, et al. 2004 Feb 27 [Updated 2024 May 16].

13.

Hereditary Fructose Intolerance.

Gaughan S, Ayres L, Baker PR II. 2015 Dec 17 [Updated 2021 Feb 18].

14.

Loeys-Dietz Syndrome.

Loeys BL, Dietz HC. 2008 Feb 28 [Updated 2018 Mar 1].

15.

Hyperphosphatemic Familial Tumoral Calcinosis.

Ramnitz MS, Gafni RI, Collins MT. 2018 Feb 1.

16.

Hypophosphatasia.

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

17.

X-Linked Protoporphyria.

Balwani M, Desnick R; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network. 2013 Feb 14 [Updated 2019 Nov 27].

18.

Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development.

Délot EC, Vilain EJ. 2003 Oct 30 [Updated 2022 May 26].

19.

Generalized Arterial Calcification of Infancy.

Ziegler SG, Gahl WA, Ferreira CR. 2014 Nov 13 [Updated 2020 Dec 30].

20.

Barth Syndrome.

Ferreira C, Pierre G, Thompson R, et al. 2014 Oct 9 [Updated 2020 Jul 9].

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