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com in Drosophila melanogasterNeurospora crassa OR74AEscherichia phage D108All 6 Gene records
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
Joubert Syndrome.
Parisi M, Glass I. 2003 Jul 9 [Updated 2017 Jun 29].
Spondylocostal Dysostosis, Autosomal Recessive.
Turnpenny PD, Sloman M, Dunwoodie S. 2009 Aug 25 [Updated 2023 Aug 17].
Hermansky-Pudlak Syndrome.
Introne WJ, Huizing M, Malicdan MCV, et al. 2000 Jul 24 [Updated 2023 May 25].
PPP2R5D-Related Neurodevelopmental Disorder.
Mirzaa G, Foss K, Nattakom M, et al. 2019 Jan 24.
Chondrodysplasia Punctata 2, X-Linked.
Kumble S, Savarirayan R. 2011 May 31 [Updated 2020 Jan 9].
Brugada Syndrome.
Brugada R, Campuzano O, Sarquella-Brugada G, et al. 2005 Mar 31 [Updated 2022 Aug 25].
Hereditary Ataxia Overview.
Perlman S. 1998 Oct 28 [Updated 2024 Sep 12].
Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter.
van der Knaap MS, Fogli A, Boespflug-Tanguy O, et al. 2003 Feb 20 [Updated 2019 Apr 4].
Congenital Myasthenic Syndromes Overview.
Abicht A, Müller JS, Lochmüller H. 2003 May 9 [Updated 2021 Dec 23].
Hereditary Spastic Paraplegia Overview.
Hedera P. 2000 Aug 15 [Updated 2021 Feb 11].
Congenital Diaphragmatic Hernia Overview.
Longoni M, Pober BR, High FA. 2006 Feb 1 [Updated 2020 Nov 5].
Holoprosencephaly Overview.
Tekendo-Ngongang C, Muenke M, Kruszka P. 2000 Dec 27 [Updated 2020 Mar 5].
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview.
Sparks SE, Krasnewich DM. 2005 Aug 15 [Updated 2017 Jan 12].
Dilated Cardiomyopathy Overview.
Hershberger RE, Jordan E. 2007 Jul 27 [Updated 2022 Apr 7].
Hereditary Coproporphyria.
Wang B, Bissell DM. 2012 Dec 13 [Updated 2022 May 19].
Variegate Porphyria.
Singal AK, Anderson KE. 2013 Feb 14 [Updated 2019 Dec 12].
Tyrosinemia Type I.
Sniderman King L, Trahms C, Scott CR. 2006 Jul 24 [Updated 2017 May 25].
Beta-Thalassemia.
Langer AL. 2000 Sep 28 [Updated 2024 Feb 8].
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].
Pitt-Hopkins Syndrome.
Sweetser DA, Elsharkawi I, Yonker L, et al. 2012 Aug 30 [Updated 2018 Apr 12].
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