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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
Citrullinemia Type I.
Quinonez SC, Lee KN. 2004 Jul 7 [Updated 2022 Aug 18].
Bachmann-Bupp Syndrome.
Bupp C, Michael J, VanSickle E, et al. 2022 Aug 25.
Thrombocytopenia Absent Radius Syndrome.
Petit F, Boussion S. 2009 Dec 8 [Updated 2023 Nov 2].
FMR1 Disorders.
Hunter JE, Berry-Kravis E, Hipp H, et al. 1998 Jun 16 [Updated 2024 May 16].
BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer.
Petrucelli N, Daly MB, Pal T. 1998 Sep 4 [Updated 2023 Sep 21].
Lynch Syndrome.
Idos G, Valle L. 2004 Feb 5 [Updated 2021 Feb 4].
Hand-Foot-Genital Syndrome.
Innis JW. 2006 Jul 11 [Updated 2019 Aug 8].
Facioscapulohumeral Muscular Dystrophy.
Preston MK, Tawil R, Wang LH. 1999 Mar 8 [Updated 2020 Feb 6].
Hereditary Paraganglioma-Pheochromocytoma Syndromes.
Else T, Greenberg S, Fishbein L. 2008 May 21 [Updated 2023 Sep 21].
Nonsyndromic Retinitis Pigmentosa Overview.
Fahim AT, Daiger SP, Weleber RG. 2000 Aug 4 [Updated 2023 Apr 6].
Jervell and Lange-Nielsen Syndrome.
Tranebjærg L, Samson RA, Green GE. 2002 Jul 29 [Updated 2017 Aug 17].
CHD7 Disorder.
van Ravenswaaij-Arts CM, Hefner M, Blake K, et al. 2006 Oct 2 [Updated 2022 Sep 29].
Autosomal Dominant Tubulointerstitial Kidney Disease – REN.
Živná M, Kidd K, Kmoch S, et al. 2011 Apr 5 [Updated 2020 Dec 10].
Kabuki Syndrome.
Adam MP, Hudgins L, Hannibal M. 2011 Sep 1 [Updated 2024 Apr 25].
Dihydrolipoamide Dehydrogenase Deficiency.
Quinonez SC, Thoene JG. 2014 Jul 17 [Updated 2021 Sep 30].
SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders.
Hammer MF, Xia M, Schreiber JM. 2016 Aug 25 [Updated 2023 Apr 6].
MYRF-Related Cardiac Urogenital Syndrome.
Kaplan JD, Stewart B, Prasov L, et al. 2022 Nov 10.
Congenital NAD Deficiency Disorder.
Mark P, Dunwoodie S. 2023 Jul 27.
ALPK1-Related Autoinflammatory Disease.
Kozycki C, Kastner D, Huryn L, et al. 2024 Jun 27.
PLP1 Disorders.
Wolf NI, van Spaendonk RML, Hobson GM, et al. 1999 Jun 15 [Updated 2019 Dec 19].
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