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ok in Homo sapiensDrosophila melanogaster (2)All 4 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
Aromatic L-Amino Acid Decarboxylase Deficiency.
Blau N, Pearson TS, Kurian MA, et al. 2023 Oct 12.
HYAL2 Deficiency.
Fasham J, Wenger OK, Crosby AH, et al. 2023 Sep 21.
GM3 Synthase Deficiency.
Cruz V, Xin B, Wang H. 2023 Jul 20.
KCNQ2-Related Disorders.
Miceli F, Soldovieri MV, Weckhuysen S, et al. 2010 Apr 27 [Updated 2022 May 19].
STAT3 Hyper IgE Syndrome.
Hsu AP, Davis J, Puck JM, et al. 2010 Feb 23 [Updated 2020 Mar 26].
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy.
Paloneva J, Autti T, Hakola P, et al. 2002 Jan 24 [Updated 2020 Dec 10].
Birt-Hogg-Dubé Syndrome.
Sattler EC, Steinlein OK. 2006 Feb 27 [Updated 2020 Jan 30].
Alpha-Mannosidosis.
Ficicioglu C, Stepien KM. 2001 Oct 11 [Updated 2024 Jun 13].
Myotonic Dystrophy Type 1.
Bird TD. 1999 Sep 17 [Updated 2024 Mar 21].
McKusick-Kaufman Syndrome.
Slavotinek AM. 2002 Sep 10 [Updated 2020 Dec 3].
Zellweger Spectrum Disorder.
Steinberg SJ, Raymond GV, Braverman NE, et al. 2003 Dec 12 [Updated 2020 Oct 29].
Alkaptonuria.
Introne WJ, Perry M, Chen M. 2003 May 9 [Updated 2021 Jun 10].
Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy.
Kurahashi H, Hirose S. 2002 May 16 [Updated 2023 Mar 23].
Autosomal Dominant Epilepsy with Auditory Features.
Michelucci R, Pasini E, Dazzo E. 2007 Apr 20 [Updated 2024 May 9].
Carnitine-Acylcarnitine Translocase Deficiency.
Morales Corado JA, Lee CU, Enns GM. 2022 Jul 21.
DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia.
Churpek JE, Smith-Simmer K. 2021 Oct 28.
White-Sutton Syndrome.
Assia Batzir N, White J, Sutton VR. 2021 Sep 16.
Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Amish Population.
Wallace SE, Puffenberger EG, Bean LJH. 2020 Jun 18 [Updated 2023 Dec 7].
KCNT1-Related Epilepsy.
Gertler T, Bearden D, Bhattacharjee A, et al. 2018 Sep 20.
DEPDC5-Related Epilepsy.
Baulac S, Baldassari S. 2016 Sep 29 [Updated 2023 Mar 9].
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