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Results in this book: 1 to 20 of 111

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.
2.

Hereditary Paraganglioma-Pheochromocytoma Syndromes.

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

3.

MELAS.

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

4.

Mitochondrial DNA-Associated Leigh Syndrome Spectrum.

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

5.

RERE-Related Disorders.

Scott DA, Sherr EH. 2019 Mar 21.

6.

Microphthalmia with Linear Skin Defects Syndrome.

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

7.

Leber Hereditary Optic Neuropathy.

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

8.

Hereditary Ataxia Overview.

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

9.

Primary Coenzyme Q10 Deficiency Overview.

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

10.

Congenital Diaphragmatic Hernia Overview.

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

11.

Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview.

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

12.

Primary Mitochondrial Disorders Overview.

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

13.
14.

Aromatic L-Amino Acid Decarboxylase Deficiency.

Blau N, Pearson TS, Kurian MA, et al. 2023 Oct 12.

15.

Malignant Hyperthermia Susceptibility.

Rosenberg H, Sambuughin N, Riazi S, et al. 2003 Dec 19 [Updated 2020 Jan 16].

16.

Classic Ehlers-Danlos Syndrome.

Malfait F, Symoens S, Syx D. 2007 May 29 [Updated 2024 Feb 1].

17.

Familial Lipoprotein Lipase Deficiency.

Burnett JR, Hooper AJ, Hegele RA. 1999 Oct 12 [Updated 2017 Jun 22].

18.

Hyperphosphatemic Familial Tumoral Calcinosis.

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

19.

KMT2B-Related Dystonia.

Abela L, Kurian MA. 2018 Apr 26 [Updated 2022 Sep 29].

20.

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    adenosine triphosphate OR anacardium occidentale fruit OR anemone pulsatile OR anhydrous citric acid OR arsenic cation AND (3) OR aspartic acid OR barium cation OR climates rectal flowering top OR 9002-60-2 OR datura stramonium OR 51-43-4 OR glutamic acid OR herring sperm dna OR insulin pork OR lycopodium clavatum spore OR mucuna pruriens seed OR niacinamide OR oyster shell calcium carbonate, crude OR saccharomyces cerevisiae rna OR serotonin OR 7704-34-9 OR sus scrofa parathyroid gland OR sus scrofa pituitary gland OR thiamine ion OR thyroid, unspecified OR ubidecarenone
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