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Pubmed for Handhelds

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Journal Abstract Search

193 related items for PubMed ID: 32376645

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  • 4. 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; 185(8):2325-2334. PubMed ID: 33951304
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  • 9. 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; 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; 160(6):309-315. PubMed ID: 32599602
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  • 17. Consanguinity as an Adjunct Diagnostic Tool.
    Srivastava P, Saxena D, Joshi S, Phadke SR.
    Indian J Pediatr; 2016 Mar; 83(3):258-60. PubMed ID: 26138576
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  • 20. Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.
    Ullah W, Ilyas M, Tariq M, Imdad M, Ullah I, Efthymiou S, Faheem M, Abbas M, SYNAPS Study GroupQueen Square Institute of Neurology, University College London, London, UK., Aamir M, Nouman M, Houlden H.
    Int J Dev Neurosci; 2023 Jun; 83(4):368-373. PubMed ID: 37186309
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