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Fletta eftir höfundi "Zhang, Li"

Fletta eftir höfundi "Zhang, Li"

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  • Zhang, Li; Pilarowski, Genay; Pich, Emilio Merlo; Nakatani, Atsushi; Dunlop, John; Baba, Rina; Matsuda, Satoru; Daini, Masaki; Hattori, Yasushi; Matsumoto, Shigemitsu; Ito, Mitsuhiro; Kimura, Haruhide; Björnsson, Hans Tómas (2021-03-12)
    Kabuki syndrome (KS) is a rare cause of intellectual disability primarily caused by loss-of-function mutations in lysine-specific methyltransferase 2D ( KMT2D), which normally adds methyl marks to lysine 4 on histone 3. Previous studies have shown that ...
  • Kalinousky, Allison J.; Luperchio, Teresa R.; Schrode, Katrina M.; Harris, Jacqueline R.; Zhang, Li; DeLeon, Valerie B.; Fahrner, Jill A.; Lauer, Amanda M.; Björnsson, Hans Tómas (2024-01)
    Individuals with Kabuki syndrome type 1 (KS1) often have hearing loss recognized in middle childhood. Current clinical dogma suggests that this phenotype is caused by frequent infections due to the immune deficiency in KS1 and/or secondary to structural ...