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6. Warburg micro syndrome in two children from a highly inbred Turkish family. Yildirim MS; Zamani AG; Bozkurt B Genet Couns; 2012; 23(2):169-74. PubMed ID: 22876574 [TBL] [Abstract][Full Text] [Related]
7. Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? Gumus E Ophthalmic Genet; 2018 Jun; 39(3):391-395. PubMed ID: 29419336 [TBL] [Abstract][Full Text] [Related]
8. Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes. Koparir A; Karatas OF; Yilmaz SS; Suer I; Ozer B; Yuceturk B; Ozen M Am J Med Genet A; 2019 Apr; 179(4):579-587. PubMed ID: 30730599 [TBL] [Abstract][Full Text] [Related]
9. Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome. Asahina M; Endoh Y; Matsubayashi T; Fukuda T; Ogata T Brain Dev; 2016 Mar; 38(3):337-40. PubMed ID: 26421802 [TBL] [Abstract][Full Text] [Related]
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11. Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. Liegel RP; Handley MT; Ronchetti A; Brown S; Langemeyer L; Linford A; Chang B; Morris-Rosendahl DJ; Carpanini S; Posmyk R; Harthill V; Sheridan E; Abdel-Salam GM; Terhal PA; Faravelli F; Accorsi P; Giordano L; Pinelli L; Hartmann B; Ebert AD; Barr FA; Aligianis IA; Sidjanin DJ Am J Hum Genet; 2013 Dec; 93(6):1001-14. PubMed ID: 24239381 [TBL] [Abstract][Full Text] [Related]
12. Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping. Sezer A; Kayhan G; Koç A; Ergün MA; Perçin FE Cytogenet Genome Res; 2020; 160(6):309-315. PubMed ID: 32599602 [TBL] [Abstract][Full Text] [Related]
13. Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome. Arroyo-Carrera I; de Zaldívar Tristancho MS; Bermejo-Sánchez E; Martínez-Fernández ML; López-Lafuente A; MacDonald A; Zúñiga Á; Luis Gómez-Skarmeta J; Luisa Martínez-Frías M Am J Med Genet A; 2015 Jun; 167(6):1243-51. PubMed ID: 25899426 [TBL] [Abstract][Full Text] [Related]
14. Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy. Kabzińska D; Mierzewska H; Senderek J; Kochański A Folia Neuropathol; 2016; 54(3):273-281. PubMed ID: 27764520 [TBL] [Abstract][Full Text] [Related]
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16. Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report. Khalesi R; Razmara E; Asgaritarghi G; Tavasoli AR; Riazalhosseini Y; Auld D; Garshasbi M BMC Neurol; 2021 Apr; 21(1):180. PubMed ID: 33910511 [TBL] [Abstract][Full Text] [Related]
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20. A novel mutation in RAB3GAP1 gene in Chinese patient causing the Warburg micro syndrome: A case report. Zhou D; Wang Q; Liu H Medicine (Baltimore); 2021 Jan; 100(2):e22902. PubMed ID: 33466118 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]