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Journal Abstract Search

141 related items for PubMed ID: 37575647

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  • 2. Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome.
    Kerkeni N, Kharrat M, Maazoul F, Boudabous H, M'rad R, Trabelsi M.
    J Clin Neurol; 2022 Mar; 18(2):214-222. PubMed ID: 35196747
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Handley M, Sheridan E.
    ; 1993 Mar. PubMed ID: 29300443
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  • 10. A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
    Borck G, Wunram H, Steiert A, Volk AE, Körber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C.
    Hum Genet; 2011 Jan; 129(1):45-50. PubMed ID: 20967465
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  • 12. Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice.
    Park AK, Liegel RP, Ronchetti A, Ebert AD, Geurts A, Sidjanin DJ.
    BMC Genet; 2014 Dec 05; 15():135. PubMed ID: 25476608
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  • 13. Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran.
    Hozhabri H, Talebi M, Mehrjardi MYV, De Luca A, Dehghani M.
    Am J Med Genet A; 2020 May 05; 182(5):957-961. PubMed ID: 32162791
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  • 16. 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 May 05; 160(6):309-315. PubMed ID: 32599602
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  • 17. From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients.
    Mutlu Albayrak H, Elçioğlu NH, Yeter B, Karaer K.
    Am J Med Genet A; 2021 Aug 05; 185(8):2325-2334. PubMed ID: 33951304
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  • 19. Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome.
    Geckinli B, Turkyilmaz A, Alavanda C, Sager G, Arslan Ates E, Soylemez MA, Arman A.
    Clin Dysmorphol; 2023 Apr 01; 32(2):55-61. PubMed ID: 36876345
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