Results 111 to 120 of about 496,953 (167)

Identification of the novel c.149-8C>G splicing variant in RHCE*02 that weakens C antigen expression. [PDF]

open access: yesTransfusion
Tournamille C   +6 more
europepmc   +1 more source

Correction: DYRK1A roles in human neural progenitors. [PDF]

open access: yesFront Neurosci
Courraud J   +7 more
europepmc   +1 more source

A novel JK-null allele due to splicing variant. [PDF]

open access: yesTransfusion
Tournamille C   +7 more
europepmc   +1 more source

FOXJ1 transcriptional targets in human airway cells and impaired multiciliogenesis in FOXJ1-associated primary ciliary dyskinesia. [PDF]

open access: yesAm J Respir Cell Mol Biol
Thomas L   +24 more
europepmc   +1 more source

Large phenotypic variability with severe respiratory involvement in <i>MEGF10</i>-related myopathies: Description of three cases. [PDF]

open access: yesJ Neuromuscul Dis
Pennisi A   +10 more
europepmc   +1 more source

Confirmation of biallelic <i>VPS11</i> variants as a cause of complex dystonic syndrome. [PDF]

open access: yesClin Park Relat Disord
Storck A   +7 more
europepmc   +1 more source

Screening chemical libraries for the development of oral treatments for bleeding disorders. [PDF]

open access: yesBlood Vessel Thromb Hemost
Zelli R   +9 more
europepmc   +1 more source

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