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of 2
pro vyhledávání: '"Maria Kasherman"'
Autor:
Danyon, Harkins, Tracey J, Harvey, Cooper, Atterton, Ingrid, Miller, Laura, Currey, Sabrina, Oishi, Maria, Kasherman, Raul Ayala, Davila, Lucy, Harris, Kathryn, Green, Hannah, Piper, Robert G, Parton, Stefan, Thor, Helen M, Cooper, Michael, Piper
Publikováno v:
Cells. 11(15)
Nuclear factor one X (NFIX) is a transcription factor required for normal ependymal development. Constitutive loss of
Autor:
Danyon Harkins, Richard M. Gronostajski, Maria Kasherman, Michael Piper, Thomas H. J. Burne, Lachlan Harris, Sabrina Oishi, Nyoman D. Kurniawan, Oressia Zalucki
Publikováno v:
EBioMedicine
Background Nuclear Factor One X (NFIX) haploinsufficiency in humans results in Malan syndrome, a disorder characterized by overgrowth, macrocephaly and intellectual disability. Although clinical assessments have determined the underlying symptomology